Genetic testing is a very useful tool for health and wellness. Yet all tools have limitations.

“23andMe does not offer diagnostic testing. For testing related to a personal or family history of a particular genetic disease, please consult a healthcare provider in order to ensure that you are pursuing the most appropriate test for your personal situation.”

Topics not included in 23andme reports:

  1. “Drug response (for example CYP2D6 and certain HLA alleles)
  2. Copy number variations (CNVs), balanced rearrangements, and mosaicism 
  3. MTHFR analysis, such as a targeted mutation analysis, methylation analysis, or detox profile”

23andme uses genotyping, which is the simple method of identifying single (mostly) character changes in your genetic data. These single character changes are known as variants or Single Nucleotide Polymorphisms (SNPs). But, your genome has several other types of variations that are not detected by this technology.

“23andMe is not designed to analyze for repeated, inserted, inverted, translocated or deleted segments of DNA”

One important type of genomic variation is Copy Number Variations (CNVs). In copy number variations, certain genetic features are repeated again and again as in multiple copies are present. The 23andMe test is not designed to detect these and does not report data on most CNVs.

Hence, the 23andMe health report does not address the following.

Trisomies and copy number variations

There are 23 pairs of chromosomes in most people. The 23rd pair is known as sex chromosome, written as X and Y chromosomes. X carries female features and Y carries male features. In some instances, instead of XX (for females) and XY (for males), an individual may inherit an extra chromosome leading to a condition called Trisomy. Examples of trisomies include Down syndrome (trisomy 21), and Klinefelter syndrome (XXY). These conditions are not detected and reported by 23andMe

Trinucleotide repeat disorders

Certain segments of the genome repeat over and over again. A group of three genomic characters such as CAG can repeat several terms. This type of repeating can lead to diseases such as Huntington's Disease and Fragile X syndrome

The 23andMe genotyping platform is not capable of detecting trinucleotide repeats and therefore 23andMe reports do not include any condition on trinucleotide repeat disorders. Nor is there relevant data related to trinucleotide repeat disorders in the raw data.

Repeats, insertions, translocations, or deletions

In some cases, genomic features may be deleted or new features inserted (in comparison to reference genomes). Such disorders include DiGeorge syndrome (aka 22q11.2 deletion syndrome) and Cri du Chat syndrome (5p- where part of chromosome 5 is missing).

In addition, the majority of Spinal Muscular Atrophy (SMA) and Duchenne Muscular Dystrophy (DMD) cases are due to loss of genetic material (in each case just part of the gene is missing).

23andme’s technology is not designed to analyze repeated, inserted, inverted, translocated, or deleted segments of DNA, in most cases 23andme cannot provide information about copy number or other genetic features that are related to the number or order of base pairs present.

References

  1. https://www.23andme.com/dna-health-ancestry/?nav1=true
  2. https://www.xcode.life/23andme-raw-data/cyp2d6-status-using-dna-raw-data/
  3. https://www.xcode.life/23andme-raw-data/23andme-mthfr-ancestry-dna-raw-data/
  4. https://medlineplus.gov/genetics/understanding/genomicresearch/snp/
  5. https://www.genome.gov/genetics-glossary/Copy-Number-Variation
  6. https://en.wikipedia.org/wiki/Fragile_X_syndrome
  7. https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
  8. https://www.mayoclinic.org/diseases-conditions/klinefelter-syndrome/symptoms-causes/syc-20353949


Did you know that your 23andMe raw data (v5 chip) contains around 650,000 genetic markers? Ancestry reports only use 0.01% of this information. There is plenty of more information about your health, nutrition, fitness, allergy, MTHFR and specific genes like COMT, and APOE in your raw data.  After finding out your ancestry information on the 23andMe site, you can download your raw data and use it to find out more about yourself.

How to login to your 23andme account

To login to your 23andMe account follow the steps given below:

1: Go to https://www.23andMe.com

2: On the top right-hand corner of the page click on “Sign In”

23andMe Login Step 1

          3: Enter your login details: email address and password

          4: Click on “Sign in” again

23andMe Login Step 2

          5: You will reach your account dashboard

You may also be interested in: How To Get The Most Out Of Your 23andMe DNA Raw Data

How to sign out of your 23andMe account

To sign out of your 23andMe account follow the steps given below:

1: Move your cursor to the top right-hand corner of the screen where you can see your username.

2: Click on the drop-down arrow

23andMe Logout Step 1

3: From the drop-down menu choose “Sign out”

23andMe Logout Step 2

You have now successfully logged out of your 23andMe account

Also read “How to sign in to your Ancestry DNA account

May 2020 Update: 23andMe COVID-19 research

The goal of this study to understand the variations in symptoms (ranging from mild to severe) in people affected with the novel coronavirus.) In order to participate, you must be 18 years or older and must live in the United States. After providing consent, you will need to fill out a survey post which you will receive a kit to collect your saliva.

Do you have your DNA raw data from 23andMe, AncestryDNA, MyHeritage, FTDNA, Living DNA or any other company?

Upload the file to Xcode Life to get insights into 700+health-related traits at a 55% discount!

Updated March 13, 2021

Hand-grip strength: An Introduction

We often take things for granted in our life such as our body and the body parts that are involved in performing some basic functions.

For example, we use our hands and legs to perform many day-to-day activities, but we never pay attention to them unless or until we lose the ability to use a hand or a leg due to an injury.

Focusing on the hand, have you ever given a thought about your hand’s grip strength?

Handgrip strength is a vital force that is required to pull, push, or suspend objects.

It is a part of hand strength or physical strength that is utilized by animals or humans, especially athletes such as rock climbers.

Rock climbers require muscle power and the force that is generated by hands, which makes the handgrip strength extremely critical for their sport.

Hand-grip strength from one person to the other varies based on the ability of the hand to grip objects in many different ways or positions.

Hence, the handgrip is classified into three types:

Crush grip

This grip is usually required by the hand to perform functions involving a handshake or gripping an object against the palm and wrapping the fingers around the object.

Did you know a stronger variant of this grip can be used to break objects?

Pinch grip

In this grip, the fingers are on one side of the object, and the thumb is on the other side of the object, so the object will not be in contact with the palm.

This grip is comparatively weaker and is usually required by the hand to grab an object.

Support grip

This grip requires muscular strength and muscular endurance so that the hand can generate a proper grip and hold on to objects for a long time.

Training methods to improve Grip strength

Any normal and healthy individual has some amount of grip strength in his/her body.

But,  some athletes and professionals need to have a higher grip strength due to the activities they perform daily.

This needs them to increase or improve their grip strength, and this is possible by using different types of grip training methods.

Grip strength training requires a form of exercise that is different than what is necessary for muscular training.

All parts of the hand must be exercised to have a steady hand with a strong grip.

For closing grip strengthening:

Thick bar and Thick Grip

Working on a thick grip bar that is over 2 inches and performing activities such as deadlifts, pullups, or the farmer’s walk can help train the support grip.

Plate Pinches

This exercise involves grabbing plates smooth-side out and pinching them.

Sledgehammer lever

This activity includes levering a sledgehammer using the wrists to train the fingers and wrists.

Plate curls or wrist curls

This involves grabbing a plate and doing wrist or regular curls with them by placing the fingers on the bottom and the thumb on the top.

This helps train the wrists, fingers, and the thumb for a pinch grip.

Hangboard

This can be used for a full-crimp grip, a half-crimp grip, and an open hand grip, all of which are required for climbing.

For opening grip strengthening:

To strengthen one’s opening grip, the extensor muscles (that are the opposite of the flexors of the hands) need to be trained to achieve the right balance between opposing muscle groups.

These extensors are significant in grip because they contract to support finger flexion.

To train these muscles, you can shove your hand into substances like rice and try extending it or placing an object like rocks in a coffee can and put your hand in the box and try to reach it to pick up the coffee can.

This is a great way to train the extensor muscles in your hands.

High-resistance rubber bands

These are now sold by many companies and are a great way to strengthen your extensor grip. 

Wrist extension exercises(also called as reverse wrist curls) are useful to stimulate the finger extensor fibers.

Another exercise that is good to improve the opening grip is fist pushups, done on the backside of the first finger bone that would increase the pressure put on the extensor muscles.

For Stabilization

Handstands wherein the gripping strength is used to stabilize the hand to prevent the body from falling towards the front, and the extensor muscles prevent the body from falling backward.

Exercise using metal rods help to strengthen and stabilize one’s hand grip indirectly.

Fingertip pushups are useful to improve stabilization as they would use the opening as well as closing grip muscles to keep the fingers from sliding and help focus bone density in hand.

Exercises to improve hand-grip strength

Hand-grip strength tends to reduce as individual ages.

Men’s grip strength starts to deteriorate post 55 years of age.

However, some exercises can be done to improve hand-grip strength, such as:

To improve grip strength, one must go through all these types of exercises and training and spread them out throughout the week.

Hand-grip strength: What’s the genetic link?

Handgrip strength has genetic links and is used as a market for the degree of one’s frailty and helps predict a wide range of morbidities.

Some genes and SNPs increase one’s susceptibility to good or poor handgrip strength.

[table id=158 /]

Gene 1: DEC1

The A allele of SNP rs72762373 is associated with better hand-grip strength as compared to the G allele.

This SNP is present in association with the DEC1 gene, the exact function of which is still unknown.

Gene 2: GBF1

The A allele of SNP rs2273555 belonging to the GBF1 gene is beneficial for a better hand-grip strength because this allele is associated with higher levels of strength, muscle mass, and muscle fiber size.

Gene 3: GLIS1

The C allele of SNP rs4926611 belonging to the GLIS1 gene is associated with a better hand-grip strength compared to the T allele of the same gene.

Gene 4: HLA

SNP rs78325334 is located on chromosome 6 in association with the HLA gene.

This SNP has been linked to handgrip strength, and the presence of the C allele is a risk whereas, the T allele is beneficial to the same.

Gene 5: HOXB3

SNP rs2288278, located on chromosome 17 in association with the HOXB3 gene, is associated with handgrip strength.

The presence of the A allele is beneficial to people for better handgrip strength as compared to those who have the G allele.

Gene 6: KANSL1

rs80103986 is an SNP that is associated with the KANSL1 gene.

The presence of the A allele is beneficial and gives a better hand-grip strength as compared to the T allele.

Gene 7: MGMT

The presence of the T allele of SNP rs374532236 belonging to the MGMT gene is beneficial for hand-grip strength.

Gene 8: SYT1

A allele of the SNP rs10861798 belonging to the SYT1 gene is beneficial for hand-grip strength whereas, the G allele is a risk for the same.

The SYT1 gene is responsible for the release of neurotransmitter release at the synapse, which means that it is essential for the muscle movements and nerve signals.

In SNP rs958685, the A allele is beneficial for a better handgrip compared to the C allele.

Handgrip strength and heart health

Handgrip strength can be used to measure the risk of an individual with the onset of cardiovascular disease in adults.

Research studies have shown that a better handgrip is associated with healthier heart function.

An 11-pound decrease in grip strength is linked to:

The association between gip strength and heart disease was a strong irrespective of age, exercise, smoking, and other factors.

Grip strength could be an easy and inexpensive test to assess an individual’s risk of cardiovascular disease, said Dr. Darryl Leong.

You might also be interested in: The Secret To A Healthy Heart Lies In Your Genes: Analyze Your DNA Raw Data

Dietary recommendations to improve hand-grip strength

Apart from the training methods and exercises mentioned to improve grip strength.

Diet plays a significant role in increasing the hand-grip strength.

Dietary protein intakes are proven to increase muscle strength in older adults, as the muscle strength increases the hand-grip strength, which is a part of it also tends to increase.

Protein, in combination with a healthy diet, can be useful in maintaining muscle strength.

Importance of measuring Hand-grip strength

Hand-grip strength is one of the characteristics used to identify adult malnutrition.

Clinically hand-grip strength is used to measure the risk of functional impairment of hands in older adults. 

Do you have your DNA raw data from 23andMe, AncestryDNA, FTDNA, MyHeritage?

Upload your DNA raw data to Xcode Life. Our Gene Fitness Report analyses endurance, power, heart capacity, weight loss or weight gain with exercise, and more than 15+ such traits.

References:

  1. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5510175/
  2. https://www.ebi.ac.uk/gwas/variants/rs2288278
  3. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5939721/
  4. https://www.ahajournals.org/doi/pdf/10.1161/JAHA.118.011638
  5. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5984956/

MC1R gene: Introduction

MC1R or melanocortin-1 receptor gene plays an important role in the normal pigmentation process in the body.

The gene encodes the receptor for the Melanocyte Stimulating Hormone (MSH), which is one of the two hormones that regulate pigmentation.

The MC1R receptor is also known as the melanocyte-stimulating hormone receptor or the melanotropin receptor. 

Polymorphisms in the MC1R gene reduce the ability of the MC1R receptor to stimulate eumelanin production. This leads to melanocytes making more pheomelanin.

The MC1R receptor is active in cells other than melanocytes as well. These include cells involved in the body’s immune and anti-inflammatory responses.

Several SNPs are associated with this MC1R gene. They are primarily linked to fair skin, red or light hair and freckles.

They also show a varying risk of melanoma and non-melanoma skin cancers.

The SNPs of the MC1R gene also influence responses to opioid analgesics that are used to treat pain.

Research shows that opioids are more effective in females with red hair, and light skin and have lesser MC1R protein activity.

What are freckles?

Small, brown spots often present in the sun-exposed areas of the skin are called freckles.

They are almost always harmless and appear due to the overproduction of melanin in response to UV stimulation.

Freckles are essentially of two types: Ephelides and solar lentigines.

Ephelides are freckles that occur as a result of sun exposure.

Anyone who is exposed to sun rays or UV rays can develop these spots on their face, back of their hands and on their upper body.

This type of freckles is common in people with light skin and is generally seen in individuals with Caucasian and Asian descent.

The second type of freckles is called solar lentigines. It is a patch of dark skin that is harmless in nature and tend to appear in older Caucasians (above the age of 40yrs).

What causes freckles?

Freckles, as we now know, occur as a result of melanin that builds up under the skin, forming the spots.

There are two primary causes that have been cited for the development of freckles:

So, we see freckles developing after a brief exposure to the sun.

Freckles tend to become darker on increased sun exposure and can also disappear when skin cells are replaced.

The human body produces two types of melanin – eumelanin (that protects the skin from sun’s UV rays) and pheomelanin (no protective function).

But, the type of melanin an individual produces depends on the MC1R gene.

How can one identify freckles from other skin pigmentations?

Our skin shows different types of pigmentations – moles, freckles, birthmarks, age spots, and sunspots.

But, how can we differentiate freckles from other similar looking marks?

Freckles, on exposure to the sun, appear as flat pigmented spots in clusters over a larger area of the skin.

They are irregular in shape but have clearly defined edges.

They are brown, tan or red in color and not more than 1-2 mm in size.

Who are at a risk for developing freckles?

Individuals with lighter or fair skin are at an increased risk of developing freckles and therefore, must take extra precautions before stepping out in the sun.

These individuals are also at a higher risk of developing skin cancer.

Freckles: What’s the genetic link?

[table id=102 /]

There are some SNPs on the MC1R gene that are associated with freckles, fair skin, and UV rays:

The T allele of SNP rs1540771 is said to be associated with 1.26x risk of freckles, and UV sensitivity and brown hair.

The rs1042602 SNP on the TYR gene is polymorphic in Europeans and the A allele derived from it is associated with light/fair skin, eye color and the absence of freckles.

rs1805008 is also known as Arg160Trp or R160W and is one of the many SNPs that is found in the MC1R gene and is associated with red hair color, especially in the Irish population.

The T allele increases the risk of melanoma in this population with individuals having CT being carriers of red hair and a higher risk of melanoma compared to those having CC alleles.

Individuals with TT alleles have 7-10 times more chance of having red hair and at a greater risk of developing melanoma.

How to get rid of freckles?

Despite the genetic contribution to freckles, no one is actually born with it.

Freckles appear when an individual is exposed to the sun.

They tend to become darker during the summer months and fade away during the winter.

However, there are a few treatments and home remedies that one can use to get rid of these freckles.

Those who are prone to freckles must apply sunscreen every time they step out.

Using a sunscreen of SPF 30 or above can help the formation of new freckles but cannot help you get rid of the existing ones.

There are different types of lasers that target specific areas in the skin.

It can take about 2-3 weeks to recover from the treatment and more than one session is needed for achieving the desired results.

The retinoids in the cream help absorb UV B radiation and prevent the formation of new lesions.

This method can be used to treat or get rid of freckles but it can have some side effects such as hypopigmentation or blistering, but it rarely causes scarring.

The hydroquinone present in these creams suppresses the production of melanin and helps lighten the darkened areas of the skin.

When the damaged skin heals after a chemical peel, new skin appears without the freckles.

There are many natural or homemade remedies to lighten or get rid of freckles.

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Vitamin supplements

Topical application of vitamin C is believed to reduce or lighten skin spots.

It also helps the skin heal from sun damage.

What are sunspots? 

Sunspots, also called liver spots, are flat pigmented lesions that appear on the skin on exposure to the sun.

They are harmless in nature and are non-cancerous.

They appear in different shades of brown. Individuals who are over the age of 40 years are more prone to it.

Sunspots are commonly seen on the face, back of the hands, shoulders, and back.

What are the causes of sunspots? 

Sunspots occur due to:

Can you get rid of sunspots? 

Yes. Sunspots can be lightened or even removed completely using various home remedies and cosmetic procedures.

The cosmetic procedures need to be performed by a trained professional only and include procedures such as cryotherapy, microabrasion, chemical peels, laser treatment,  or use of intense pulse light.

Home-remedies for sunspots

The antioxidants and active compounds in the tea are believed to bring about this effect.

The acetic acid present in vinegar is believed to help lighten skin pigmentations.

Lactic acid present in these substances is believed to bring about the required change.

Sunspot: What’s the genetic link?

[table id=103 /]

Individuals with the rs885479 SNP of the MC1R gene having A allele had an increased risk for developing sunspots.

This is an SNP of the MC1R gene and is also called as Val92Met or V92M.

It is associated with light and deep red hair and skin that is prone to sunburn.

The presence of the A allele increases the risk of an individual to developing sunspots.

You might also be interested in: A Guide To Analyze Your Genetic Variants For Psoriasis

What is tanning? 

Tanning is a phenomenon wherein your skin darkens on exposure to the UV rays of the sun.

When exposed to the sun, your body produces melanin as a protective mechanism to absorb the harmful UV rays and protect the skin cells.

This excess melanin production leads to darkening of the skin.

Excessive absorption of UV radiation can cause sunburns.

It is quite common to see people getting a tan for the recreational purpose either by sunbathing (lying in the sun) or by using a tanning lamp found in indoor tanning beds.

One can also get a tan by using chemicals, an activity is known as sunless tanning.

What causes tanning? 

When we walk out into the sun without sunscreen or have some parts of our body exposed, we are putting our skin cells at great risk of sun damage.

We often notice that when a dark-skinned individual is exposed to the sun, they tend to get darker, whereas light-skinned individuals turn red.

These changes in body color are due to the melanocytes producing melanin, resulting in tanning or sunburn.

Production of melanin in response to sun exposure is a protective function of the melanocytes.

Melanin absorbs the harmful UV radiations and protects the other skin cells.

So, the next time you sunbathe to get a tan or inadvertently get one while walking in the sun without sunscreen or adequately cover your body, you know why your body is getting tanned.

A tan may be a fashion statement, but just like sunburn, it is a form of skin damage and can put one at risk of developing cancer in the future.

Tanning and risk of melanoma 

Melanoma is the term given to cancer that develops from skin cells called melanocytes.

It is also known as malignant melanoma and is a leading cause of death globally.

There has been a rise in melanoma cases primarily due to increased exposure to sun while sunbathing and indoor tanning devices.

The increase melanocyte in response to the UV rays is a grave risk factor for melanoma.

Home remedies to get rid of suntan

There are many useful home remedies we can try to get rid of tan or at least lighten the color.

These include vitamin C, vitamin E, glycolic acid, retinoids, etc.

It contains antioxidants that help lighten the skin and also heal and soothe the damaged skin.

Care should be taken to avoid any harsh chemical lighteners, peels, bleaches, etc., on tanned or sunburnt skin as they can aggravate the damage already done to the skin.

You might also want to read: Get flawless skin in 7 days

Tanning: What’s the genetic link?

[table id=104 /]

rs1805009 is an SNP that is known as Asp294His and is located on the MC1R gene. It is a variant that is linked with red hair and a low tendency to tan.

[table id=105 /]

rs2228479  is an SNP that is present on the MC1R gene and is associated with skin pigmentation.  The A/A allele increases the individual’s susceptibility to melanoma whereas the G/G allele shows a lower risk.

References:

https://www.snpedia.com/index.php/MC1R

https://ghr.nlm.nih.gov/gene/MC1R#synonyms

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3977302/

https://www.snpedia.com/index.php/Rs2228479

https://en.wikipedia.org/wiki/Sun_tanning

https://www.snpedia.com/index.php/Rs2228479

DNA Methylation

It is a process by which methyl groups are added to a DNA molecule.

This can change the activity of DNA without changing the sequence of the molecule.

In mammals, DNA methylation is an essential process required for normal development and is also associated with key processes like genomic imprinting, aging carcinogenesis, etc.

Methylation can occur only with 2 of DNA’s 4 bases i.e cytosine and adenosine.

Cytosine methylation is seen in both eukaryotes and prokaryotes, but its rate can vary widely.

Adenosine methylation, on the other hand, occurs in bacteria, plants and recently discovered in mammals as well.

DNA methylation occurs in three different sequences: CG, CHG or CHH, where H corresponds to Adenosine(A), Thymine(T) or Uracil/Guanine(U/G).

In mammals, DNA methylation occurs in the CG sequence with the cytosine of both strands being methylated.

The most common form of DNA methylation occurs at the 5-carbon position of cytosine –5 methylcytosine.

In mammals, 60-80% of the CG are methylated in the somatic cells and this high frequency of methylation is responsible for a large number of mutations, which cause genetic, metabolic and chronic diseases like cancer.

Analyze your DNA raw data for your MTHFR gene profile

Why is DNA methylation important?

DNA methylation is the primary basis of the chromatin structure and is usually found in the CpG dinucleotide region.

Methylation is proven to play a crucial role in regulating gene expression and these modifications occur at very specific locations within the genome of each species.

While DNA methylation is a regular thing and is essential for various cell processes, aberrant methylation can lead to the development of diseases.

Hand-picked content for you: Know Your Genes: MTHFR “Folic Acid Gene”

What does MTHFR deficiency mean?

MTHFR or Methylenetetrahydrofolate reductase is the rate-limiting enzyme in the methyl cycle and is responsible for the conversion of homocysteine into methionine.

A deficiency in this enzyme is said to be one of the most common causes of elevated levels of homocysteine.

It occurs due to genetic defects in the MTHFR, which is an important enzyme in the methyl cycle.

There are two common variants of MTHFR deficiency.

The more common one of the two is homologous for the 677T polymorphism.

The homologous 677T variant can increase the risk of some diseases.

Individuals who are homozygous in this variant tend to have an elevated risk of thromboembolism and stroke.

Children of such individuals stand to have an increased risk of neural tube defects.

The second variant of the MTHFR deficiency is a milder 1298C polymorphism which leads to 68% of the control values of enzyme activity and normally does not lead to low serum folate.

What is the effect of methylation?

DNA methylation is the transfer of methyl (-CH3)group to the DNA strand, often to the 5th carbon of the cytosine ring.

This conversion of cytosine to 5-methylcytosine is brought about by a special set of enzymes known as DNA methyltransferases.

Methylation is seen in all mammals and is essential for the normal growth and development of individuals.

It also enables the suppression of retroviral gene expressions and other potentially dangerous sequences of DNA that have entered and may have damaged the host. DNA methylation is responsible for the formation of chromatin structure.

Any aberration in the methylation process can lead to the development of various diseases.

What does methylation do to the body?

Methylation of proteins can change the way a protein reacts with other substances in the body.

It can affect enzymes, hormones, and genes.

In some instances, methylation of proteins helps to detoxify the body as seen in the case when homocysteine is methylated to methionine, which is a beneficial amino acid.

Methylation affects the efficiency of enzymes and also can turn genes on and off, which can impact our health positively and negatively.

What effect does methylation have on gene expression?

Studies show that methylation affects gene expression.

There is believed to be a correlation between gene transcription and undermethylation.

The presence of methyl moieties is also believed to inhibit gene expression.

Methylation influences gene expression by affecting the DNA of both chromatin proteins and specific transcription factors.

The methylation patterns are stable in somatic cells but in early embryonic stages, they are characterized by alteration in the DNA modification.

How can changes in gene expression lead to cancer?

Mutations are basically abnormal changes that occur in the DNA of a gene.

Mutations affect the DNA bases that form the genetic code.

Even a single base change can bring out a disastrous effect.

Different mutations bring about different types of effects– some prevent the formation of proteins, some affect the proteins' functions, some lead to diseases and others might not have any effects.

DNA methylation, modification of the histones, and RNA interference are few ways that affect gene expression and bring about mutations.

Some of these mutations can lead to the development of cancer in an individual.

What causes poor methylation?

There are multiple factors stated for poor methylation. These include:

What causes undermethylation?

Every cell in our body needs methylation to grow and repair.

But, what happens when there is a shortage of methyl molecules?

This situation is called as undermethylation.

This causes a lot of different effects on the body.

Undermethylation reduces the production of two common neurotransmitters –serotonin and dopamine.

Undermethylation can occur to many factors like nutrient deficiency, change in the bacteria in the gut, medications, high stress, high intake of histamines, allergies and infections.

MTHFR mutations

MTHFR gene is one of the 20,000 genes a human being carries.

But, about 30-50% of the people also carry the MTHFR gene mutation.

Having this mutation puts these individuals at a high risk of cardiac disease, Alzheimer’s, colon cancer, etc.

When an individual has an MTHFR mutation, it changes the way one metabolizes and converts nutrients in the diet into minerals, and proteins one can use.

This mutation can also affect hormone and neurotransmitter levels, brain functioning, cholesterol levels, digestion and similar effects on other body systems and processes.

Few symptoms of MTHFR gene mutations include:

To know about how to interpret your MTHFR results from DNA raw data click here.

How do you test for methylation?

With a lot of individuals at a high risk of sub-optimal methylation, it is important to know how one can test for it.

Complete blood count (CBC) 

Large RBCs, anemia or RBCs with a Mean Corpuscular Volume(MCV) greater than 95% are signs of faulty methylation.

Homocysteine test

This is one of the important tests you will be advised if faulty methylation is suspected.

Homocysteine levels over 13 indicate a problem with methylation. The ideal value is between 6 and 8.

Urinary Amino Acid Test

This test is used to look for unusual metabolic disorders involving vitamins B6, folate and B12 that do not show up in a Homocysteine or methylmalonic acid test.

Urinary or Serum methylmalonic acid test

This test is a specific test to detect B12 insufficiency. The levels of the acid may get elevated even with a normal level of vitamin B12 or homocysteine levels.

What is the methylation test?

DNA methylation test enables the doctor to screen patients for a variety of genetic changes like SNPs, which affect the function of important biochemical processes.

The presence and absence of these SNPs are said to modify disease risk, which can be reduced or eliminated by making some lifestyle changes.

The SNPs in the methylation test profile include VDR, BHMT, COMT, MAO-A, AHCY, CBS, MTR, MTHFR, MTRR, SHMT, and SUOX.

How do you increase methylation naturally?

For individuals who have suboptimal or reduced methylation, there are some lifestyle changes they can make to naturally increase methylation.

This primarily includes dietary changes to include foods that promote and support methylation.

Some methylation promoting food items include:

How does methylation cause cancer?

DNA methylation is currently being widely studied.

It is known to be a normal part of genome functioning and any alteration in this process is said to affect the key functioning of the cells in an organism including development, differentiation, and gene expression.

However, alterations in the DNA methylation cycle is said to also be the underlying cause of many diseases, including cancer.

The methylation process in cancer cells is said to be different from that seen in normal cells, and this difference is responsible for the diagnosis of cancer.

It is believed that factors causing hypo or hypermethylation lead to changes in the process of DNA methylation.

These changes affect gene expression, cause gene mutations and thereby increase the risk of cancer development.

Does methylation tighten DNA?

Our body has more than 6 feet of DNA that are packed into each cell.

So, for the genes to get turned on or off, the DNA needs to be loosened up so that the cell can read the DNA sequences.

When methylation of DNA occurs, the cell can loosen or tighten the DNA in order to turn the genes 'on' or 'off'.

This is known as epigenetics.

What does methylation do to histones?

Histone methylation involves the modification of some amino acids like lysine and arginine in a histone protein by the addition of one, two or three methyl groups.

The methylation or demethylation of histones turns the genes in DNA ‘off’ and ‘on’ respectively.

Histone methylation is associated with transcriptional repression.

However, methylation of some lysine and arginine residues leads to transcription activation.

Does DNA methylation cause any damage to the body?

Methylation is brought about by methylating agents.

These agents modify DNA at different sites, thereby producing lethal lesions and disease conditions.

What supplements should I take for MTHFR deficiency?

To deal with MTHFR deficiency, you must include the following supplements in your diet:

Ensure you get a gentle detox regime throughout the week that includes regular exercises, Epsom salt baths, and infrared sauna.

What are methylated vitamins?

About 30% of the population is unable to metabolize the unmethylated forms of certain vitamin B, especially folate and vitamin B12.

So, active forms of vitamin B, known as the methylated form are given to these people as they can easily utilize this form of the vitamins.

Is choline a methyl donor?

Choline is an essential nutrient and a methyl donor involved in many physiological processes like metabolism, transport of lipids, methylation reactions, and neurotransmitter synthesis, etc.

Is methyl B12 healthy?

The active form of vitamin B12 is known as methylcobalamin which is required for methylation.

But, in people who are deficient in methyl groups, methyl B12 supplements are given that provide these crucial methyl groups for the process of methylation.

What does methyl B complex do?

Methyl B complex is a vitamin B supplement that contains 8 essential B vitamins, choline, inositol, and folate.

Vitamin B is needed by the body to convert food into energy and the methyl B complex enables the body to do so in individuals who have a deficiency of the same.

What is N methylation?

In N methylation, the methyl group is attached to the Nitrogen (N) atom in the substrate.

N methylation of peptides is often employed for the production of antibiotics

The structural change brought about by the addition of a methyl group to the N atom, not only helps stabilize large proteins but also inhibit actions of certain enzymes as part of a defense mechanism.

How does diet affect epigenetics?

The nutrients we eat, enter the metabolic pathways where they are modified and molded into molecules the body can use easily.

Such pathways are responsible for making methyl groups.

Nutrients like vitamin B, folic acid, etc are important parts of this methyl-making pathway.

Diets that are high in these methyl-donating nutrients rapidly affect and alter gene expression, especially very early on when the fetus is growing and the epigenome is just being established.

The food eaten by the pregnant mother shapes the epigenome of the unborn child.

Healthy methylation in the mother throughout her pregnancy ensures that her child is born healthy.

What are the factors affects your DNA?

The first thing we learn about DNA is the fact that it doesn’t change for an individual and remains the same throughout their lifetime.

However, the genes on the DNA get influenced or affected by several factors– both internal and external.

The way a gene works is known as gene expression and this can change over a period of time.

Environmental factors that affect gene expression include food, drugs exposure to chemicals and toxins. Some of these changes are inheritable.

Can diet affect DNA?

Epigenetics is the change that occurs in gene expression due to outside forces.

Epigenetics is different from mutations as epigenetics doesn’t directly affect the DNA but rather in the surroundings such as enzymes, and other chemicals that determine how a DNA molecule unwinds its various sections to make proteins and new cells.

One such factor that affects not just your DNA, but your children’s and your grandchildren's too, is diet.

Yes, what you eat affects your progeny.

If you have poor dietary habits, no matter how healthy your children or grandchildren eat, they will suffer from poor health consequences.

Diet recommendations

Over-methylation is as hazardous as under-methylation.

But, there are multiple dietary changes one can make to restore the balance of methylation.

Treat nutrient deficiencies and primarily consume adequate amounts of vitamin B12 and folate.

Apart from these, also ensure that you consume other nutrients like methionine, methionine, taurine, DHA, minerals like zinc, magnesium, potassium, and vitamins like riboflavin, niacin,  choline, etc.

Maintaining a healthy gut microflora can help restore methylation and continue to maintain its efficiency.

Avoid methyl donor competitors such as environmental toxins, chronic high stress, high estrogens, high histamines, etc.

Vitamins

Individuals who suffer from MTHFR mutation must take essential nutrient supplements. Most important of them are methyl-B12, methyl folate, riboflavin, and vitamins C, D, and E.

Is DNA methylation reversible?

DNA methylation is a long-term stable conversion.

However, when the silencing of the genes must be reversed, demethylation occurs.

This is called epigenetic reprogramming.

Though the exact mechanism is not known, it has been speculated that the reprogramming or demethylation is caused by DNA deaminases that bring about the removal of amino groups.

This process of DNA demethylation occurs in all mammalian systems in all genomes.

Does DNA methylation increase with age?

DNA methylation is said to increase with age.

As one is aging, the DNA methyltransferases or DNMTs start the methylation process more frequently in some cytosine-rich areas.

These areas are non-coding areas that contain no genetic information and are located ahead of the genes that will welcome the RNA polymerase enzyme that is responsible for the transcription.

When the promoters get hyper-methylated, the RNA polymerase cannot hook up onto them and this inhibits gene transcription.

What is the purpose of DNA methylation and histone modification?

DNA methylation is an essential part of the human and mammalian genome.

Hyper or hypo-methylation has negative effects on the body.

In fact, DNA methylation and histone modification are said to be responsible for the development of neurodegenerative diseases like Alzheimer’s and Parkinson’s.

Can Mthfr cause high blood pressure?

Studies in recent times have shown that the folate metabolizing enzyme MTHFR is among the 8 loci that have been associated with blood pressure.

677C ->T polymorphism of MTHFR is said to increase the risk of hypertension by 24-78% and cardiovascular diseases by up to 40%.

MTHFR and other related conditions

DNA methylation influences the onset and progression of many disease conditions because it acts as an effector of many of environmental factors such as diet and lifestyle both of which influence the development of cardiovascular diseases.

Analyze your DNA raw data for your MTHFR gene profile

References

  1. https://en.m.wikipedia.org/wiki/Methylenetetrahydrofolate_reductase_deficiency
  2. https://ghr.nlm.nih.gov/gene/MTHFR
  3. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3521964/
  4. https://www.nature.com/scitable/topicpage/the-role-of-methylation-in-gene-expression-1070
  5. https://www.hhmi.org/research/reversible-rna-and-dna-methylation
  6. https://www.sciencedirect.com/science/article/pii/S0047637417302671
  7. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5156363/
  8. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5156363/
  9. https://www.ncbi.nlm.nih.gov/pubmed/27720779
  10. https://www.ncbi.nlm.nih.gov/pubmed/25091541

Xcode Life's MTHFR and Methylation Report gives you the status of more than 15 genes associated with the methylation pathway.

23andMe offers you a world of genetics! Analyzing the variations at specific positions in your genome- called SNPs (single nucleotide polymorphisms). They can give you a report covering your genetic traits (eye/hair color, etc) and your risks for certain health conditions. Their 'Health + Ancestry' service provides all the reports on ancestry-related findings and carrier statuses, health predispositions, wellness, and genetic traits. Carrier status reports, Health predisposition reports, Wellness reports, and  Traits are discussed.

click here to read more

How does it work?

23andMe's home-based saliva collection kit makes it the simplest. Once you order their test, you will receive the saliva collection kit within 3-5 days. You have to follow the instructions given in the kit and spit into the tube provided. Register it using the barcode and mail it back to their lab using the pre-paid package. And within a time span of 3-5 weeks, they will contact you via an email and provide your reports. You can just login into your account to discover everything about your DNA.

click here to know how to provide your saliva sample

How is your privacy protected?

You get the right to choose how your genetic information can be used and shared with others. 23andMe tells you how your choices can be implemented, how they collect, utilize and disclose your information. They promise the following:

click here to know more

What will I receive at the end of the service and how can I see the list of currently available reports?

Depending on the type of services you buy, you will be receiving the reports. If you happen to purchase the Health + Ancestry service, you would be getting all the reports and tools offered in the Ancestry service along with reports on your traits, wellness, carrier status, and health predispositions.

click here to read more

Does 23andMe diagnose any disease?

No, 23andMe reports do not diagnose any diseases or health conditions, nor does it provide any medical advice.

Will you receive a printed (hard) copy of my results?

Although you will not be receiving a printed copy of your report, your reports available via your account are printable. You just have to log in to your 23andMe account to view your information and print it out, if need be.

What disease does 23andMe test for?

click here to view the list of diseases that 23andMe test for

Is genetic testing a good idea?

Genetic testing has reached a milestone when it comes to pre-screening technology! It gives you tremendous benefits by letting you know the health predispositions that you could pass on to your kids in advance.

click here to read more

Which is the best genetic test?

click here to view the list of the best genetic test

How long does it take to get my 23andMe results?

While the sample processing is likely to take 3 to 5 weeks (from the time your sample reaches the lab).

click here to read more

What can genetic testing reveal?

Genetic testing can reveal endless possibilities! It can even help individuals conceived via sperm donors trace his/her ancestry and discover their risk of acquiring certain diseases. If you are someone who possesses a strong family history of a certain disease condition, your doctor can shortlist the best test you might need.

click here to read more

What are the risks and limitations of genetic testing?

Most of the risks associated with genetic testing involve the emotional, financial and/or social consequences of the results. Individuals might end up feeling sad, angry, anxious, frustrated or guilty upon seeing their results. It could also create tension within the family and there's also a possibility of genetic discrimination.

click here to read more

How is genetic testing done?

Upon making the decision to proceed with genetic testing, you can get your doctor, specialist, a medical geneticist or nurse practitioner to order the test. Most genetic tests are performed using your sample of blood, saliva, hair, amniotic fluid, skin or tissue.

click here to read more

Can genes be patented?

The exclusive rights to a gene (the specific sequence of DNA) given by a government to the individual, corporation or organization who claims to have identified the gene for the first time is referred to as a "Gene Patent".

If a gene receives a patent, the holder of the patent gets to dictate how the gene can be used- in clinical, commercial and non-commercial settings for 20 years from the date of the patent.

How is genetic testing in a research setting different from clinical genetic testing?

The purpose of the test and the recipient of the results account to the main differences between genetic testing done in a research setting and that of a clinical setting.

click here to read more

How accurate are DNA tests?

There are umpteen success stories that we hear every day about someone or the other who have found information about their family using a DNA test. There are an equal amount of stories that claim that these tests can be inaccurate as well. Thus it is necessary to analyze all the myths related to what DNA testing can or cannot offer.

click here to read more

What are the pros and cons of genetic testing?

Pros:

  1. Insights offered: You get to discover the coding part of your gene that can be relevant to a particular disease- if it involves interruptions, disruptions, and mutations associated with it.
  2. Less uncertainty: Instead of being worried about a future ailment, getting to know if you do not have a particular mutation, it can help ease your anxiety about your health. Another advantage is that you get to determine who else in your family could be at risk.

click here to read more

Whether the results are positive or otherwise, genetic testing has potential benefits. It can give you a sense of relief from uncertainty and help you make informed decisions about managing your health. While a negative result can eliminate the need for unnecessary checkups and screening tests, a positive result can take you towards preventative measures, monitoring and treatment aspects. It can help you make decisions about starting a family too

MyHeritage DNA is all about your genealogy. It helps you discover your lineage, your blood relatives, ethnicity and your unknown relatives. The Lineage testing can trace your ancestry back to real existing individuals who possess that particular DNA type throughout the prehistoric period until the present.

How expensive is Genetic testing?

It can range from Under $100 to more than $2000 depending on its complexity. If it involves more than one test or multiple family members, extra cost might be required. Newborn screening might cost between $15 and $60 per infant.

click here to know more

Should you be 18 to do 23andMe?

Yes, it is a prerequisite that you must be 18 years of age or older in order to agree to the company's Terms of services (TOS) on behalf of yourself or whomsoever you have the legal authority to agree. You have to represent that you are 18 years of age or older while providing a saliva sample or to access your genetic information.

Does 23andMe tell your ethnicity?

Yes, 23andMe analyzes the variations at specific positions in your genome- Single nucleotide polymorphisms (SNPs) and has the potential to give you all the information about your ancestry. You get to choose the specific type of DNA to learn about how your DNA is used in their ancestry reports. They are as follows:

  1. Autosomal DNA
  2. X Chromosome
  3. Y Chromosome
  4. Mitochondrial DNA

click here to read more

Which are the best DNA kits of 2019?

click here to know about the best DNA kits

Does 23andMe diagnose any disease?

No, 23andMe reports do not diagnose any diseases or health conditions, nor does it provide any medical advice.

Carrier status report

This report will tell you if you possess any specific genetic variants that you could pass over to your kids.

Also, Carrier Status Reports are not intended to diagnose a disease or predicting your future risk of acquiring a disease.

Each of these reports is the most relevant for individuals of certain ethnicities.

Most importantly, this report is not intended to predict anything regarding the health of your fetus or newborn's risk of developing certain diseases later.

Hand-Picked article for you:

Health predisposition report

This tells you if you possess genetic variants that might increase your risk of developing certain health conditions.

But it is important to ensure that these reports do not cover all the possible genetic variants and that there could be other factors (lifestyle and environment) that could also influence your risk to these health conditions.

Wellness report

This link your DNA and traits that are related to healthy living.

Trait report

This link your DNA and your features and characteristics and while it can predict your chances of possessing a trait, it is important to note that there can be numerous other factors that can influence your actual traits.

Will you receive a printed (hard) copy of my results?

Although you will not be receiving a printed copy of your report, your reports available via your account are printable. You just have to log in to your 23andMe account to view your information and print it out, if need be.

What disease does 23andMe test for?

The 23andMe genetic testing finds out if you possess risks for the following diseases and health conditions:

[table id=85 /]

Is genetic testing a good idea?

Genetic testing has reached a milestone when it comes to pre-screening technology!

It gives you tremendous benefits by letting you know the health predispositions that you could pass on to your kids in advance.

Imagine how you could design a diet and fitness regimen to maintain good health or to prevent certain cancers!

Healthcare professionals are finding genetic testing to be extremely beneficial and their studies on it are transforming how they prescribe various treatment aspects.

When one comes to know that they are at risk for certain diseases or health conditions, they get to make preventative actions in order to stave them off.

For instance, if the report predicts the risk of Alzheimer's, the person can take preventative actions such as doing activities that help boost their memory and can stand a chance to prevent the disease.

Genetic testing reveals endless possibilities about you- your traits toward going bald to finding out if you have inherited the genetic tendencies from your grandfather who was an Olympic swimmer.  However, you cannot expect a 100% accuracy in results. You could still acquire a disease if you have certain genetic markers.

Currently, there are over 70000 genetic testing products available in the U.S. markets and has evolved to be a big business and is going towards making an even bigger impact on healthcare.

Not only is genetic testing interesting or informative, but can also be life-saving!

You might also like: How genetic report from 23andMe Raw data can help you improve your health

Which is the best genetic test?

Some of the best genetic testing companies are:

[table id=87 /]

How long does it take to get my 23andMe results?

While the sample processing is likely to take 3 to 5 weeks (from the time your sample reaches the lab).

You can find the status of your sample by logging in to your 23andMe account. The lab will report your data once the processing gets completed. Your results will then be computed and made available on your account.

You will be receiving emails that will notify you about the following processing milestones:

What can genetic testing reveal?

Genetic testing can reveal endless possibilities!

It can even help individuals conceived via sperm donors trace his/her ancestry and discover their risk of acquiring certain diseases.

If you are someone who possesses a strong family history of a certain disease condition, your doctor can shortlist the best test you might need.

Not only does genetic testing help you discover if you're at risk of any disease but also guide towards what needs to be done.

You can discover your DNA relatives that you never knew before. These genetic testing companies offer a social media platform that helps you connect with your relatives. This can be beneficial for adoptees, donor0received children and people who hope to find their unknown relatives.  

What are the risks and limitations of genetic testing?

Most of the risks associated with genetic testing involve the emotional, financial and/or social consequences of the results.

Individuals might end up feeling sad, angry, anxious, frustrated or guilty upon seeing their results. It could also create tension within the family and there's also a possibility of genetic discrimination.

When it comes to an inherited condition, Genetic testing can only offer limited information. It also fails to determine if one will exhibit symptoms of a disorder, about the severity of it and whether or not if the disease/health condition might progress over time.

One major limitation of genetic testing is the lack of treatment strategies after being diagnosed with a genetic disorder.

However, a genetics professional will be able to explain all the benefits, risks and limitations involved with a particular test you might be willing to take.

It is important that anyone who is considering genetic testing understand and weigh these factors before going for one.

Hand-Picked article for you: Have Your 23andMe Raw Data? Use It To Get 500+ Health-Realted Genetic Traits!

How is genetic testing done?

Upon making the decision to proceed with genetic testing, you can get your doctor, specialist, a medical geneticist or nurse practitioner to order the test.

Most genetic tests are performed using your sample of blood, saliva, hair, amniotic fluid, skin or tissue.

The sample is then sent to the lab where trained technicians find out if there are any specific changes in the DNA, chromosomes or proteins, based on the suspected disease/health condition.

They then report the test results directly to the patient (if requested) or the doctor, specialist or genetic counselor who ordered the test.

Prior to undergoing a genetic test, it is important that a person understands the testing procedure, the pros & cons and the possible consequences of the results.  

Can genes be patented?

The exclusive rights to a gene (the specific sequence of DNA) given by a government to the individual, corporation or organization who claims to have identified the gene for the first time is referred to as a "Gene Patent".

If a gene receives a patent, the holder of the patent gets to dictate how the gene can be used- in clinical, commercial and non-commercial settings for 20 years from the date of the patent.

How is genetic testing in a research setting different from clinical genetic testing?

The purpose of the test and the recipient of the results account to the main differences between genetic testing done in a research setting and that of a clinical setting.

While the genetic testing done for the clinical scenario is aimed at finding of an inherited disorder in a family or by an individual, that done as a part of a research study are usually not available to patients or their doctors.

It is important for individuals considering genetic testing to know if the test is available on research or clinical basis. Both of these types of genetic testing involves a process of informed consent.

How accurate are DNA tests?

There are umpteen success stories that we hear every day about someone or the other who have found information about their family using a DNA test. There are an equal amount of stories that claim that these tests can be inaccurate as well.

Thus, it is necessary to analyze all the myths related to what DNA testing can or cannot offer.

No, in reality, there are three kinds of them that can help you discover your family history. They are:

  1. Autosomal DNA (Can reveal your ethnicities and connect you to your living cousins)
  2. Y-DNA (Can answer all your questions about your family history- up to at least 10 generations!)
  3. mtDNA (mitochondrial DNA which can be used to trace a direct maternal line)

Depending on what your research goal is, you can make use of all these 3 kinds of DNA tests.

There is DNA on licked stamps, envelopes, used razors and in the root of your hair.

Although it can be a tricky process to extract and an expensive process to process, it is entirely possible.

Though your DNA test might give you insights into where your ancestors might have lived or belonged to, it is quite unlikely to significantly impact your genealogy.

While autosomal DNA test results can be very good at determining immediate relationships, you will need to make a further interpretation of other tests and relationships prior to making any solid conclusions.

Indeed, you can discover your 2X great-grandparents.

However, it might take a significant amount of genealogy research.

What are the pros and cons of genetic testing?

Pros:

  1. Insights offered: You get to discover the coding part of your gene that can be relevant to a particular disease- if it involves interruptions, disruptions, and mutations associated with it.
  2. Less uncertainty: Instead of being worried about a future ailment, getting to know if you do not have a particular mutation, it can help ease your anxiety about your health. Another advantage is that you get to determine who else in your family could be at risk.
  3. You can take preventative measures: When you have a clearer portrait of your risks, you can make healthy lifestyle shifts and also encourage your family members to get tested.
  4. Discrimination is protected: Your results will appear on your medical record only. Also, your employers will be prohibited to use your data to hire, fire or promote, according to several anti-discrimination laws.  And insurance companies cannot use your data to state it as a pre-existing condition.

Cons:

  1. Genetic testing can be really expensive
  2. the results might trigger emotions-  you could get sad, angry, anxious, angry or guilty.
  3. It isn't a full-body review: It can be a target only towards a specific disease or health condition and the patient might miss out on getting tested for a different condition.

What are the benefits of genetic testing?

Whether the results are positive or otherwise, genetic testing has potential benefits.

It can give you a sense of relief from uncertainty and help you make informed decisions about managing your health.

While a negative result can eliminate the need for unnecessary checkups and screening tests, a positive result can take you towards preventative measures, monitoring and treatment aspects.

It can help you make decisions about starting a family too.

What kind of DNA test does MyHeritage use?

MyHeritage DNA is all about your genealogy.

It helps you discover your lineage, your blood relatives, ethnicity and your unknown relatives.

The Lineage testing can trace your ancestry back to real existing individuals who possess that particular DNA type throughout the prehistoric period until the present.

How expensive is Genetic testing?

It can range from Under $100 to more than $2000 depending on its complexity.

If it involves more than one test or multiple family members, an extra cost might be required.

Newborn screening might cost between $15 and $60 per infant.

Click here to know about Xcode life's FTDNA, AncestryDNA, and 23andme DNA raw data interpretation and analysis cost.

Should you be 18 to do 23andMe?

Yes, it is a prerequisite that you must be 18 years of age or older in order to agree to the company's Terms of services (TOS) on behalf of yourself or whomsoever you have the legal authority to agree.

You have to represent that you are 18 years of age or older while providing a saliva sample or to access your genetic information.

Does 23andMe tell your ethnicity?

Yes, 23andMe analyzes the variations at specific positions in your genome.

Single nucleotide polymorphisms (SNPs) and has the potential to give you all the information about your ancestry.

You get to choose the specific type of DNA to learn about how your DNA is used in their ancestry reports. They are as follows:

  1. Autosomal DNA
  2. X Chromosome
  3. Y Chromosome
  4. Mitochondrial DNA

Ancestry Composition report uses DNA you inherited from both sides of your family and informs the proportion of your DNA that comes from genetic populations worldwide.

Haplogroup reports tell you about the ancient origins of your patrilineal ancestors and matrilineal ones.

Neanderthal Ancestry report tells you if parts of your DNA can be traced back to Neanderthals (ancient humans that interbred with modern ones before becoming extinct 40000 years ago).

Your DNA family report gives you all the information about the diverse group of 23andMe customers who have DNA in common with you and help you trace all your DNA relatives around the world.

Which are the best DNA tests of 2019?

The following are the best DNA kits:

[table id=88 /]

Xcode Life accepts DNA raw data from all the ancestry test providers listed above and several more.

Click here to find out the complete list.

Xcode Life covers more than 50 traits in Gene Nutrition and Gene Fitness Reports. Personalized reports on health, skin, allergies and precision medicine are generated from the DNA raw data.

More than 500 genetic variants are analyzed for the diet and fitness modules.

Our expert-curated topical reports are based on publicly available literature from a range of resources from leading scientific journals.

You might also be interested: Best Ancestry DNA Test of 2018

Health-relative information that you can learn from 23andMe

23andMe offers you a world of genetics!

Analyzing the variations at specific positions in your genome- called SNPs (single nucleotide polymorphisms).

They can give you a report covering your genetic traits (eye, hair color, etc) and your risks for certain health conditions.

Their 'Health + Ancestry' service provides all the reports on ancestry-related findings and carrier status, health predispositions, wellness, and genetic traits.

Carrier status reports

Tells you about variants that may not affect your health but could possibly affect the health of your future family.

If you are reported to be a carrier for a particular condition, although you typically do not have the genetic condition, you are likely to pass it down to your kids.

You can work towards preparing for your future family's health when you understand your carrier status.

Health predisposition reports

Tells you how your genetic makeup can influence the chances of acquiring certain diseases. You can learn if you possess genetic variants linked to a high risk of developing certain health conditions like Parkinson's disease, Late-onset Alzheimer's disease, etc.

If your reports say you have a particular variant, it doesn't necessarily imply that you will develop the condition but that you are a risk of developing it. Non-genetic factors like lifestyle and environment can also influence the risk of those diseases.

Wellness reports

This helps you make more informed choices related to healthy living. You can find out if your DNA influences your muscle type, caffeine consumption, lactose intolerance, etc.

Traits

The traits report helps you explore how your DNA makes you unique by emphasizing all your traits- from physical features to your food preferences.

How does it work?

23andMe's home-based saliva collection kit makes it the simplest.

Once you order their test, you will receive the saliva collection kit within 3-5 days.

You have to follow the instructions given in the kit and spit into the tube provided.

Register it using the barcode and mail it back to their lab using the pre-paid package. And within a time span of 3-5 weeks, they will contact you via an email and provide your reports.

You can just login into your account to discover everything about your DNA.

Providing your saliva sample

23andMe's saliva collection kits are easy to use and contain detailed instructions in every kit. It permits samples given even under varying health circumstances such as pregnancy, flu, acid reflux, etc.

But, if you are undergoing medical treatment like chemotherapy that reduces your WBC count, it is best to wait until a couple of weeks after your last treatment.

Once it is mixed with the DNA stabilization buffer liquid, your saliva sample gets stable even at a wide range of temperatures (-4ºF to 122ºF). It is recommended that your sample gets shipped to the laboratory at the earliest.

The kit provides a set of instructions that you need to follow strictly during the collection and shipping processes.

You might also like: 23andMeRaw data analysis interpretation

How is your privacy protected?

You get the right to choose how your genetic information can be used and shared with others. 23andMe tells you how your choices can be implemented, how they collect, utilize and disclose your information.

They promise the following:

What will I receive at the end of the service and how can I see the list of currently available reports?

Depending on the type of services you buy, you will be receiving the reports.

If you happen to purchase the Health + Ancestry service, you would be getting all the reports and tools offered in the Ancestry service along with reports on your traits, wellness, carrier status, and health predispositions.

Regardless of the service you purchase, you just need one kit for a single person. If you buy only the Ancestry service, you have the option of adding the other reports whenever you want, by just paying an additional fee.

Seizures are the third most common neurological disorder after stroke and Alzheimer's disease, affecting about 50 million people worldwide. Seizures are temporary disruptions of brain functions.

It occurs due to abnormal, excessive neuronal activity, when the normal brain functions are hijacked.

If seizures are repetitive in an individual, it is a chronic condition called 'epilepsy'. The highest incidence of epilepsy is seen in young children and in the elderly.

Seizures: Understanding their types

Not all seizures are the same. Some may be accompanied by loss of consciousness, while others may not.

It is often difficult to distinguish between the episodic loss of consciousness and various types of seizures.

Though they can be of several types, broadly they are classified into two:

The other less known types are:

The many causes of seizures

The exact cause of seizures are unknown. Our brain has got restraint mechanisms in place to keep the electrical activity in check.

Sometimes, these are overridden by largely unknown mean, leading to seizures.

Several factors, may however, contribute to this:

  1. Genetics: GLUT1, SNC1A genes
  2. Brain injury: Trauma and stroke
  3. Brain infection: Human papilloma virus, measles, meningitis
  4. Drugs (including alcohol!)
  5. Consistently high fever
  6. Brain tumors
  7. Metabolic imbalance
  8. Hormonal imbalance
  9. Chronic fatigue and stress
  10. Sensory triggers: Flashing lights and rarely repetitive loud sounds

While we're not exactly sure what causes seizures, it has been considered to be the 'price we pay for years of normal cortical function'

What causes epilepsy in children?

The following have been attributed to causing epilepsy in children:

Seizures: The first clues

The signs and symptoms differs based on the location and extent of brain region affected.

However, most seizures begin with a 'Jacksonian march', i.e. starts with localized symptoms, leading to convulsions and twitching followed by the loss of consciousness.

Other seizures types may manifest as individuals staring blankly for a few seconds without realization of what's happening.

The warning signs:

  1. Auras ranging from headaches to visualizing colors
  2. Feelings of detachment
  3. Unusual smells, tastes or feelings
  4. Daydreaming
  5. Jerking movements of an arm, leg or body
  6. Fuzziness
  7. Confusion
  8. Forgetfulness
  9. Numbness or tingling sensation in certain body parts
  10. Unexplained weakness or sleepiness

A single seizure does not indicate epilepsy. It takes at least a couple of unprovoked seizures to be diagnosed as epilepsy.

Out new: Sleep 101: Everything you need to know for a well-rested night

Occurrence: Possibility of a sudden onset

Anybody can develop epilepsy. 

Factors like age, health condition, and race might influence the likelihood of developing epilepsy.

According to the statistics, about 1 in 50 individuals develop epilepsy in their lifetime.

New cases of epilepsy are noted among children, particularly during those below one-year-old, and it gradually goes down until age 10.

Among older individuals, particularly those older than 55, the rate of occurrence starts to increase as people develop brain tumors, stroke or Alzheimer’s disease.

What having seizure feels like

"It started, as it always does, with the rising feeling – the feeling of nightmares –crawling all up my body and paralyzing me so that I couldn’t call for help. Then the dread closed in all around me and everything went fuzzy and unreal. The seizure’s never the worst bit, though. The worst bit’s when I come to and I see the faces of the people I love" - Helen Stephen

During seizures, your brain undergoes bursts of electrical activity more than usual.

This can cause several symptoms depending on the type of seizure and the part of the brain which is involved.

Normal brain activities can also occur during a seizure.

You might be able to move, feel, see and do many things.

While seizures have a start, middle and an end phase, it might be difficult to categorize it sometimes.

When you experience more than one seizure, you might notice that they could be stereotypic, episodic and can also be unpredictable.

Common symptoms of a seizure include changes in your thoughts, the way you speak, vision problems, muscle changes, drooling, losing bladder controls, and trouble breathing.

Are all seizures epilepsy?

Not all seizures indicate epilepsy.

Normal EEG readings and lack of response to epileptic medicines can help distinguish between epilepsy and other seizure disorders.

Genetics: What DNA says about epilepsy

Epilepsies are highly genetic disorders. About 50% of the case occurrences have a genetic basis.

Genetic tests can yield mechanistic insights into treatment choices and prognosis.

Research shows a complex and surprising interaction between genes influencing seizure onset.

At present, more than 70 genes have been linked to epileptic phenotype.

However, most cases of seizures cannot be explained even on the recent surge in identification of epilepsy-genes.

The diagnosis of epilepsy

Upon reviewing your symptoms and medical history, your physician might order several tests to diagnose epilepsy.

The diagnostic test for epilepsy include:

Treatment: What are the different options?

There are several treatment strategies

  1. Anti-epileptic drugs
  2. Lifestyle changes (switching to ketogenic diet)
  3. Surgery: Resection and brain stimulation

About 80% patients respond to medication.

The remaining 20%, however, remain refractory.

Surgery is the treatment of choice for such patients.

Some of the anti-epileptic drugs include: Lacosamide, Rufinamide, Tiagabine, Diazepam, Phenytoin, Divalproex, Carbamazepine, Phenobarbital, and Valproic acid among many others.

Being in sync: Epilepsy and other conditions

Mental illness

Epilepsy is not a mental illness and majority of patients do not have psychological issues.

However, uncontrolled epilepsy can affect the individual psychologically.

More commonly, epilepsies can cause personality changes in an individual.

A switch in their emotional and behavioural state might occur.

Memory loss is also a common cause of worry in epileptic individuals.

Prior to the onset of a seizure, changes in mood like irritability or depression is not unusual.

Reduced libido, depression, psychosis, and paranoia can also occur as a complication.

They are, however, largely preventable.

Although epilepsy is not a psychiatric disorder, the dimension is vital for future research.

Anxiety

About 1 in 3 individuals develop the fear of seizures and constantly worry they might have an other attack soon.

Not only does anxiety occurs as a reaction to the diagnosis, but also does exist as a symptom of epilepsy and a side effect of the epilepsy drugs.

Bipolar disorder

Nigerian researchers report that epilepsy and bipolar disorder could share genetic roots.

The study concluded that there is a genetic or environmental relationship between epilepsy and bipolar disorder.

It has also been suggested that biochemical, structural, and functional abnormalities in the primary bipolar disorder could occur secondary to epilepsy.

Another research conducted by the Bayer college of Medicine has reported that the gene associated with bipolar disorder controls the balance between brain excitation and inhibition is associated with epilepsy.

Schizophrenia

While schizophrenia is not a common complication, epileptic patients are at a 2.5 times increased risk for schizophrenia compared to the normal population.

The LGI gene (leucine-rich glioma inactivated) has been linked to partial epilepsy with auditory features, representing schizophrenia.

The big question: Is epilepsy fatal?

Repeated generalized seizures without return to full consciousness between seizures, called status epilepticus, is a true medical emergency.

This condition requires aggressive seizure management and general medical support because 30 or more minutes of continuous convulsive seizures leads to brain injury or even death. 

Does a person remember having a seizure?

An individual having a seizure attack can remember what's happening to them during the onset if there is no loss of consciousness.

They cannot, however, react to it and move or speak until the attack ends.

Till date, we do not know exactly how a seizure terminates on its own.

Lifestyle changes and epilepsy

Diet: When your food plays a role

While foods have not been shown to trigger epilepsy, people with the conditions are advised to avoid the following:

  1. Refined carbohydrates (pizza, soft drinks, white bread, cakes, white rice, white pasta, chips, and bagels)
  2. Certain fruits and vegetables that fall in the medium-to-high- glycemic index (mangoes, raisins, bananas, mashed potatoes, and dates)
  3. Foods containing artificial sweeteners, preservative and MSG (Monosodium Glutamate)
  4. Ginkgo nuts

The helpful vitamins and seizures

Vitamins that reduce seizure frequency include vitamin B6 and vitamin E.

Minerals that reduce seizure frequency include manganese, taurine, dimethylglycine, and omega-3 fatty acids.

Thiamine helps improve cognitive function in epileptic patients.

Also, supplementation with folic acid, vitamin B6, biotin, vitamin D, and L-carnitine may be needed to prevent or treat deficiencies resulting from the use of anti-convulsant drugs.

Caffeine: Triggers of seizures?

A Brazilian case study has reported a case of a man with partial symptomatic epilepsy experienced an increase in seizure frequency due to his heavy coffee drinking habit.

They also reported that once he stopped taking coffee, the frequency of his seizures had decreased dramatically.

Cannabis oil and epilepsy

Cannabis-based (CBD) oil has been reported to have prevented seizures in a patient who had experienced various treatment failures.

Doctors emphasize that CBD oil isn’t a miracle cure but that it can help eliminate or reduce epilepsy symptoms and also ease off side effects caused by other drugs.

The Texas Law permits only those with intractable epilepsy (where at least two other medications have failed to help) eligibility to be prescribed CBD oil.

Physical exercises: Is staying active the key?

While exercising helps improve overall health and well being, researchers have also found a link between exercises and reduction in the number of seizures in epileptic patients.

Also since lack of physical activity is associated with cardiovascular diseases, cancers, type 2 diabetes, osteoporosis, hypertension, anxiety, and depression. Thus exercises can help prevent such conditions.

Living with epilepsy

While living with epilepsy can be quite challenging, it's not impossible. Being diagnosed with the condition can be quite upsetting and make a person with epilepsy feel isolated and alone.

The medicines they take might cause side effects which might make it difficult for them to cope with work. But with proper management and support, patients can lead a relatively normal life. They may have to stay away from potential triggers of the condition though.

Being employed when epileptic

The Equality Act 2010 protects epilepsy patients from being unfairly treated.

The act covers them during a job application, interview process and continues to cover once they start working too.

The act implies that employers cannot refuse a job to an individual just because they have epilepsy.

However, to ensure safety, they must refrain from applying for jobs that involve driving, working at heights, working near open fire/water and work that involves unguarded machinery.

References

  1. http://epilepsyontario.org/about-epilepsy/types-of-seizures/
  2. https://www.ncbi.nlm.nih.gov/m/pubmed/15371287/
  3. https://www.ncbi.nlm.nih.gov/m/pubmed/8441366/
  4. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2768382/
  5. https://www.ncbi.nlm.nih.gov/pubmed/17397265

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What is Multiple Sclerosis?

A long-term disease which attacks your Central Nervous System (CNS), affecting your brain, spinal cord, and optic nerves.

The potentially debilitating disease could cause permanent damage to the nervous system.

The symptoms of Multiple Sclerosis (MS) vary depending on the amount of nerve damage, and on the types of nerves affected.

While some individuals might lose their ability to walk, others might experience long periods of remission without any new symptoms.

Main symptoms of the disease include:

Although there is no cure for MS, treatments can help speedy recovery from attacks. It could also help to modify the course of the disease and manage symptoms.  

What are the very first signs of MS?

The following are some common early signs of MS:

What are the symptoms of MS in a woman?

As per the American National Multiple Sclerosis Society, this disease affects women three times more than men.

While most of the symptoms of MS are common in the patients of both genders, some of them are especially seen in women.

These include:

The average age of onset of MS symptoms

Although MS usually affects individuals who are between 20-50 years of age, children and teens could also get affected.

About 2-5% of individuals affected with the disease develop symptoms before 18 years of age.

How to lead a normal life with multiple sclerosis?

In most cases, MS patients can lead a normal life, but it is difficult to predict whether or not their condition will improve or deteriorate.

This is because the disease varies from one person to another.

However, MS isn't a fatal condition.  

A recent study of about 2,300 patients with multiple sclerosis reported that SNPs from HLA regions, most notably rs4959039, shows an increased risk for multiple sclerosis regardless of HLA-DRB1*1501 status. (1)

How serious is multiple sclerosis?

Although Multiple sclerosis isn't generally the cause of death, it can be a severely disabling condition.

Their life expectancies get reduced due to complications from the disease or other related medical issues.

Even though there isn't a cure for MS yet, there are several new medications to treat it, reduce the number and severity of relapses and can also delay the long-term progression and complications of the condition.

Per the National Multiple Sclerosis Society, 2.3 million people across the world are affected by MS, the main population being the people in the age group of 20-50 years.

Although there are no laboratory tests to detect the condition, genetic testing can discover gene variants associated with the risk of the condition.

This could pave the way towards finding new ways to diagnose and treat the condition.

Multiple sclerosis and Stress

MS is a chronic autoimmune disease that affects your CNS.

Although the primary cause remains uncertain, it appears that its etiology is multifactorial including both genetic and environmental factors.

For example, exposure to stress has been suspected as a factor that could aggravate MS.

Based on a study (T. Riise et al.), there was no major role in stress for developing multiple sclerosis.

But stress could be a potential risk for multiple sclerosis.

Can MS be detected through a blood test?

Though MS could be hard to identify during the early stages, there is a blood test that promises a faster diagnosis and may also help to predict the efficiency of treatment.

This blood test is based on the theory that MS is an autoimmune disease.

They collect the immune cells of the patient, check if those cells get ready for an attack while exposed to neural antigens.

If that happens, there are good chances that the person has MS.

While there are no blood tests that specifically detects MS, there are ones that can help rule out other diseases or health conditions like Systemic Lupus erythematosus, Sjogren's, vitamin deficiencies and certain rare hereditary diseases.

Apparently, there is a genetic test that discovers genetic variants associated with predispositions of  MS at a very early stage.

Such early detection of DNA risk variants might help the patients get more aware of the symptoms and find ways to treat the condition.

Studies have shown that the two genes DDX39B and IL7R are associated with increased risk of multiple sclerosis.

They emphasize that their findings may also open the door to tests that can screen individuals with a family history of MS.

This early detection of DNA risk variants may help people to be more aware of MS symptoms.

Hand-Picked article for you:

Do I have MS or fibromyalgia?

Both MS and fibromyalgia might have symptoms such as headaches, joint pain, muscle aches, numbness, tingling sensation in the extremities, fatigue, memory problems.

Also, both these conditions are more common in women than in men.

However, in MS, MRI shows brain lesions, but in fibromyalgia, it doesn't show up.

Can MS change your personality?

In addition to all the physical disabilities and difficulties associated with the disease, MS also has profound emotional consequences.

Lack of enough knowledge about the disease could add anxiety to the sufferer, especially when they are newly diagnosed.

Apart from such emotional stress, demyelination and damages to the brain's nerve fibers can cause emotional changes.

However, medications like corticosteroids can significantly help control such emotions.

What behavioral changes do people with MS go through?

Apart from physical disabilities, MS patients also struggle with behavioral changes such as:

The final stages of multiple sclerosis

End-stage MS can progress to severity at which the patients typically lose their physical independence.

It can cause mobility loss and other life-altering symptoms, and such patients might require dedicated care such as access to palliative care services, to meet their needs.

In such cases, life expectancy also gets reduced up to 5-10 years.

The advanced symptoms include pain (in muscles, nerves & joints), tremors, sensory changes, spasms, stiffness and cramps in the muscles, bowel or bladder incontinence, UTIs, constipation, mobility limitations, chewing & swallowing difficulties, speech difficulties, emotional disturbances, and pressure sores.  

End-stage MS might also trigger life-altering changes and worsen the quality of life which can lead to social isolation.

Diet recommendations for multiple sclerosis?

Although there's no fail-safe plan for eating right with MS, it is really important to follow a healthy diet. Including two liters of water and 30 grams of fiber daily along with other nutritional items, low fats, and refined sugar is what experts recommend.

Some specialists who suggest a more aggressive eating plan advice Swank diet (developed by Dr.Roy Swank)- one that is stringently low in fat, ban all dairy products, gluten, legumes, saturated fat from animal sources, and stresses on fish and fish oils.

While such plans get controversial, there is every good reason to eat a healthy diet and avoid things that are known to be bad for everyone.

A sample diet plan

Hand-Picked article for you: Have Your 23andMe Raw Data? Use It To Get 500+ Health-Realted Genetic Traits!

Foods to avoid

While consuming a nutritious diet is important, avoiding certain foods is equally important for MS patients.

Although avoiding these is usually recommended, MS patients should consult their doctors to check if they should remove the following from their diets:

What is MS hug?

MS Hug- It is a symptom of MS wherein the patients feel like a tight band has been tied around the chest or torso which results in a very painful experience.

The MS hug feels different from a person to another.

For some MS hug can manifest as a burning or tingling sensation, and for others, it may manifest as sharp pains. 

How long does MS hug last?

It can be long or short lasting or in some cases, even be persistent all the time.

The duration of the hug and the level of pain and discomfort caused will affect how one chooses to manage their symptoms.

What triggers MS hug?

Heat, stress and fatigue and other such situations where your body might not be running at a 100% efficiency can trigger an MS Hug.

It is important for MS patients to discuss with their doctors about any triggers that they have noticed.

What happens when multiple sclerosis is left untreated?

When MS patients stop taking their medications, they might experience a relapse of their symptoms.

Even patients with long periods of disease stability can relapse if they stop taking their medications.

 Check the Xcode Life's Report Finder to help you find the right report

Is MS curable?

Currently, there is no cure for MS, but it is hoped that cutting-end technologies would find a cure soon.

Fortunately, there are several FDA approved drugs that can modify the course of the disease by limiting new areas of damage in the central nervous system, by reducing the relapses, and postponing the progression of disability.

There are also many technological advances and therapies that MS patients can use to manage their symptoms more effectively.

Is MS contagious?

There's no evidence that MS can be transmitted from one person to another.

Thus, the disease is not considered contagious and cannot be caught from a person with it by coming into contact.

While many researchers opine that it is not hereditary either, individuals with an affected first-degree relative might be at risk for developing the disease.

New research suggests that individuals who have inherited a genetic mutation on gene NR1H3  might be more prone to it.

Is MS genetic?

Though MS isn't an inherited disease, there are genetic risks that may be inherited.

The risk of developing the disease is 1 in 750-1000.  

If one among a pair of inherited twins is affected with MS, 1/4 cases, the other twin also develop the disease.

Among first-degree relatives of MS patients, the risk if high, but not as high as that of identical twins.

Around 200 genes have been identified to contribute to the overall risk of developing the disease.

A Study led by Malgorzata et al. provides evidence to support that MS can be hereditary. The study looked at 30 first-degree relatives of people with MS, and the results confirmed that relatives of people with MS have a higher risk of developing brain damage. And it is unknown if such brain changes might develop into the disease.

Does multiple sclerosis run in the family?

Research studies have proven that first degree relatives of MS patients might be at risk of developing the disease.

Among patients diagnosed with MS, some might have Familial MS- a condition when at least two other family members are diagnosed with the condition.

Does multiple sclerosis skip a generation?

Family members of MS patients might share some of the same genes, inferring that there is a higher risk of developing MS if it runs in the family.

However, it cannot be said with certainty that the particular combination of disease-causing gene variants gets passed between generations.

There are many MS patients who do not have any family history related to the condition.

What are the high-risk groups for multiple sclerosis?

Numerous factors can be responsible to increase the risk of developing MS.

Here is a list of who might be at risk of developing MS:

Mutations related to multiple sclerosis

Mutations in the HLA-DRB1 gene are the strongest genetic risk factors for developing MS.  

Also, mutations in the IL7R gene (Human leukocyte antigen (HLA) complex especially HLA-DRB1*15:01 - the strongly linked genetic factor can cause MS.

Since HLA-DRB1 and IL-7R genes are both involved in the immune system, changes in either of them might be related to autoimmune responses that can damage your myelin sheaths and nerve cells and lead to MS.

MTHFR mutations

Methylenetetrahydrofolate reductase is an enzyme whose deficiency leads to impairments in folate metabolism and is thus implicated as risk factors for neural tube defects.

C677T and A1298C MTHFR mutations are said to be linked to neural tube defects.

MTHFR mutations also affect vitamin B12 and homocysteine metabolism.

MTHFR supplements recommendation for multiple sclerosis

When your MTHFR gene enzyme is defective, nutrients like folic acid, vitamin B12, etc.- whether acquired via food sources or from supplements, cannot be properly utilized.

Since you need the enzyme to make your body utilize these nutrients, defective enzyme makes it impossible.

Although there is no way to treat the defective gene, it can at least be prevented or partly managed by using active B vitamins.

These supplements skip over the MTHFR enzyme, allows your body to be nourished regardless of the defective enzyme's function. Using such supplements can help manage MS.

What is the role of the VDR gene in multiple sclerosis?

The deficiency of Vitamin D is associated with an increased risk for MS, mutations in VDR (Vitamin D receptor) gene might contain genomic regulatory elements relevant to the pathogenesis of MS.

Also, when the genotype and haplotype frequencies for polymorphisms in this gene were analyzed, it was found that the VDR T-allele and the Bft haplotype could increase MS susceptibility and can also influence its clinical manifestations.

Vitamin supplement recommendations for multiple sclerosis

It has been reported that elevated plasma homocysteine and reduced folate and Vitamin B levels can result in MS.

Homocysteine (Hcy), folic acid (FA) and vitamin B (Vit B) have key components of One carbon metabolic pathway (OCMP) and the genetic factors of OCMP play a major role in the development of MS.

(OCMP is a part of cellular metabolism which is comprised of folate and methionine cycles and supports the critical function of the synthesis of thymidylate, purines, and methyltransferase reactions)

Note: Any recommendations that are mentioned should be carried out only after consultation with a qualified genetic counselor or medical practitioner.

How are multiple sclerosis, autism, and MTHFR gene mutation interlinked?

MS and other disorders like autism, ADHD, fibromyalgia, autoimmune disease, heart diseases, neural tube defects, and miscarriages have been linked to mutations in the MTHFR gene.

These mutations might lead to a condition called homocystinuria which is a disorder in which abnormal levels of homocysteine and methionine in the body might lead to cognitive issues, eye problems, abnormal clotting, and congenital heart abnormalities.

How are Parkinson’s disease and multiple sclerosis interlinked?

While movement disorders except for tremors such as parkinsonism are seen less frequently in MS cases, investigations have shown that MS contains inflammatory and autoimmune aspects of Parkinson's disease (PD).

Although there is no clarity if the relationship between MS and PD is casual or not.

There is a probability that MS plaques can affect the basal ganglia or such structure which play a vital role in the nigrostriatal pathway that leads to dysfunction of the extrapyramidal pathway to cause Parkinson's disease.

Check for genetic variants associated with multiple sclerosis in Xcode Life's Gene Health Report

References

  1. https://www.ncbi.nlm.nih.gov/pubmed/20593013?dopt=Abstract

If you find yourself lying awake in bed at night unable to sleep and the usual fixes like counting sheep or downing a warm glass of milk don’t seem to help, don’t take it lightly—it could be insomnia.  

A 23andMe sleep study analyzed the genetics associated with sleeplessness and found that insomnia shares more genetic similarities with mental illness than with other sleep disorders.

This is not the first time that these scientists have shared such insights on sleep.

Another important determinant of a good night’s sleep- deep sleep, 23andme scientists revealed, also shares a strong genetic basis.

However, this is the first time a sleep trait has been linked to mental illness, making it imperative to find out more about your insomnia genetics.

Do you feel tired all day and alert all night? Is your sleeplessness less to do with monsters in the dark and more to do with underlying health conditions?

Not getting a good night’s sleep may sound trivial, but it has more serious and further reaching consequences than just a lethargic morning and a cranky, coffee-fuelled workday.

Insomnia has been linked to metabolic syndrome and can make sufferers more vulnerable to becoming overweight and developing diabetes and heart disease.

Insomnia is the most common sleep disorder and is considered the second-most common mental disorder.

About 30 percent of adults report short term insomnia at some point in their lives, while about 10 percent report suffers from chronic insomnia.

In a study involving over 1.3 million test subjects who volunteered their DNA samples, researchers found that no single gene contributed to this disorder, but that it was complex combination of effects from multiple genes that predisposed a person to develop insomnia.

Researchers from the Netherlands and Amsterdam collaborated with scientists from genetic testing company 23andMe to narrow down 202 gene markers involved in insomnia.

They were also able to identify the specific type of brain cells and tissues involved in striatal medium spiny neurons, hypothalamic neurons, and claustrum pyramidal neurons.

Some of which have been linked to reward processing, sleep, and arousal in animals, but have never before been genetically linked to insomnia in humans.

Hand-Picked article for you: Have Your 23andMe Raw Data? Use It To Get 500+ Health-Realted Genetic Traits!

The most interesting finding in this study, however, was the large genetic similarity between insomnia and psychiatric conditions such as anxiety, major depressive disorder, and neuroticism.

Despite being inherently a sleep disorder, insomnia had very little genetic material in common with other sleep traits like daytime dozing, snoring, excessive napping and ‘morningness’, the trait that makes some lucky individuals perky and chirpy early in the morning.

This discovery may help researchers understand the mechanism of insomnia better and help sleep specialists devise new methods and medications to treat the disorder, possibly helping patients stave off the more serious health issues that develop due to insomnia.

Moreover, understanding your risk of insomnia will help in being self- aware and to find solutions, thereby, lowering the risk of associated conditions.

The 23andme deep sleep report discusses the variant of the deep sleep gene you have, helping you understand your sleep better.

Xcode life sleep report has over 10 traits associated with sleep including insomnia, sleep quality, sleep duration and more.

What is cystic fibrosis?

Cystic Fibrosis is a progressive genetic disease that is inherited in a recessive manner.

Cystic fibrosis is characterized by persistent and frequent lung infections, and limits the ability to breathe over time.

The disease is caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator or CFTR gene.

About 75% of new dignosis of cystic fibrosis happens in children below the age of 2 - Source: Healthline

More about the CFTR gene

This gene encodes a protein that is inserted into the cell membranes of the inner lining surface of organs and forms a channel that regulates the movement of salt and water in and out of cells.

Such disease-causing mutations affect the body's ability to efficiently secrete sweat, tears, digestive juices and mucus.

Important: The Cystic Fibrosis report is only applicable to 23andMe v5 chip raw data holders

What happens during cystic fibrosis?

Cystic Fibrosis symptoms

When the CFTR gene functions normally, it aids in the transport of chloride to the cell surface and helps attract water to the surface as well.

This maintains the fluidity of the mucus in most organs.

A mutation in the CFTR leads to improper gene function because of which there is no chloride and water at the cell surface.

The mucus becomes thick and sticky in most organs.

In the lungs, this type of mucus traps bacteria and other microbes eventually leading to lung infections.

Understanding your results

Cystic fibrosis, is an autosomal recessive genetic disease.

This means the disease will only manifest in individuals who receive two mutated copies of the CFTR gene (one from each parent) will get the disease.

More than 500 known mutations of the CFTR gene have been documented to cause cystic fibrosis, although most of them are rare.

How To Analyze Your APOE Gene With Your DNA Raw Data?

What can you do if you have the cystic fibrosis variants?

Though cystic fibrosis can be diagnosed using genetic testing, there are other ways to detect this disease.

These include newborn screening, a sweat test, and clinical evaluation.

Since cystic fibrosis runs in families, couples thinking of having children can take a genetic test and evaluate their results by consulting a physician or genetic counselor.

If the genetic test reveals that you are a carrier of the disease variants, it might be useful to share your result with your family members to help them understand their risk of developing the disease.

Consulting a genetic counselor is always helpful in such cases.

Is cystic fibrosis population specific?

Though there are about 500 mutations known for the genes, the genetic tests done for cystic fibrosis help detect only the most common ones.

Incidence of Cystic Fibrosis

               Source: Research Gate

There are more than 70,000 people living with cystic fibrosis in the world today.

In African-Americans and Hispanic-Americans, the carrier rates are 1 in 65 and 1 in 46, respectively.

However, CFTR mutations are much rarer in Asians — with an incidence of 1 in 90.

It is also interesting to note that 1 out of 29 Caucasians, including Ashkenazi Jews, carry one copy of a CFTR mutation.

How is cystic fibrosis inherited?

Since cystic fibrosis is inherited in a recessive manner, an individual must have two copies of the recessive gene, one inherited from each parent.

This means that both parents must have at least one copy of the defective variant.

Individuals with just one copy of the gene are called carriers and do not themselves suffer from the disease.

The effects of having a combination of two different mutations also vary.

Inheriting cystic fibrosis

          Source: Virtual Medical Centre

Sometimes, a person who has two mutated copies of CFTR might suffer from severe lung and pancreatic disease.

In other cases, lung function may be almost normal but there might be some pancreatic effects.

In some rare cases, there might be only reproductive system effects with little or no noticeable symptoms at all.

Hand-Picked article for you: Have Your 23andMe Raw Data? Use It To Get 500+ Health-Realted Genetic Traits!

How do CFTR mutations affect the reproductive system?

One of the reproductive system effects of CFTR mutation is a congenital bilateral absence of the vas deferens (CBAVD).

Men who have been diagnosed with a low sperm count might be suffering from one CFTR mutation that they should be aware of, as this could be the reason for their infertility if they carry a second, unreported mutation on the other copy of the CFTR gene.

If you are concerned about this, you must consult a health professional.

Which is the most common CFTR gene mutation?

One relatively common CFTR mutation is the deltaF508 mutation.

Individuals with two copies of this mutation have more severe symptoms than those with one copy of this mutation and a copy of another CFTR mutation or two non-deltaF508 mutations.

Can you do a newborn screening for cystic fibrosis?

In many cases, when cystic fibrosis is suspected in newborns, they are screened by assessing the level of a certain enzyme in dried spots of blood.

Other tests are done on babies who test positive for this test in order to rule out or confirm the diagnosis of cystic fibrosis.

In the United States, all newborns are screened for cystic fibrosis as a general rule.

What are the treatment options for cystic fibrosis?

It is important to know which mutation or mutations cause cystic fibrosis in a person as this helps explore the available treatment options.

Today, the treatment of cystic fibrosis focuses primarily on unfixing the mucus, treating infections and supplying adequate nutrition.

In individuals with the G551D mutation, the drug ivacaftor is available for directly treating the dysfunctional CFTR protein.

Currently, the possibility of using ivacaftor for treating CF patients with a handful of other CFTR mutations is being studied. However, it is quite unlikely it would be an effective treatment for the deltaF508 mutation.

Does the 23andMe raw data have the cystic fibrosis mutations?

  1. DeltaF508 variant 
  2. DeltaI507 variant 
  3. G85E variant 
  4. R334W variant 
  5. R347P/H variant 
  6. A455E variant 
  7. V520F variant 
  8. G542X variant 
  9. S549N variant
  10. G551D variant
  11. R553X variant
  12. R560T variant
  13. R1162X variant
  14. W1282X variant
  15. N1303K variant
  16. 394delTT* variant
  17. 621+1G>T variant
  18. 711+1G>T variant
  19. 1078delT variant
  20. 1717-1G>A variant
  21. 1898+1G>A variant
  22. 2789+5G>A variant
  23. 3120+1G>A variant
  24. 3659delC variant
  25. 3905insT* variant
  26. 3849+10kbC>T variant

You can order your Carrier Status Report here

Sources:

  1. Fast Facts About Cystic Fibrosishealthline.com
  2. ResearchGate
  3. https://blog.23andme.com/tag/cystic-fibrosis/
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