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What can trigger a migraine?

The exact cause of the migraine has not yet been fully understood. However, doctors and healthcare providers claim that there are a set of common culprits that can trigger a migraine in a wide range of people. Here are some of the well-understood triggers associated with migraine attacks :

Unlike most other lifestyle diseases, migraine is more common among teenagers and goes on to intensify during the thirties. Certain studies have found that women are three times more likely than men to be affected.

Food recommendation

What are the foods that trigger migraines?

Certain types of foods and intermittent fasting are reported as possible triggers for migraine attacks. Paying attention to your diet is one of the ways you can reduce the frequency of migraine triggers. 

Foods to watch out for: Chocolate, onions, citrus foods, tomatoes, cheese

Stay away from these additives: Chemicals added to the food to enhance the flavor or keep the food stay fresh for a long time may bring a headache. Some of these include MSG-enhanced tasty treats, aspartame, nitrates, and nitrites.

It has been reported that certain ingredients in alcohol cause chemicals and blood vessels in the brain to act differently. In the case of certain people, one shot may be enough to trigger a headache. Apart from alcohol, caffeinated drinks could also lead to a headache. Instead of complete withdrawal, try to limit the intake of coffee to about one cup a day.   

Do bananas cause migraines?

While bananas do not ideally appear in the type of food that triggers a migraine, some studies report otherwise. They induce the release of certain molecules that increase the sensitivity of nerve endings. This predisposes an individual to severe sensitivity during a migraine attack, thereby magnifying the existing pain. However, it is healthy to consume bananas in limited quantities, say about half a cup a day.

Does ice cream help with migraines?

Some people experience a stabbing headache, often termed as brain-freeze after having ice cream. But, ironically, they claim it helps relieve the intense pain after having a brain freeze. Although this is not scientifically backed, it does serve as a tasty treatment option. The ‘brain freeze’ that people experience while eating ice-creams may temporarily desensitize the nerve endings. Unless you are adhering to a strict diet or lactose intolerant, there is no reason not to try it out. 

What should you eat if you have a migraine?

Most of us experience migraines now and again. More than 75% of the people between 18-65 age criteria claim to experience headaches over a year. Surprisingly, more than 30% claim to have migraines. 

Recent research has shown hope that tweaking the diet can help reduce the frequency of migraines. Some of the food that can help with migraine are:

Also, including vitamin B2 or riboflavin as part of the diet has shown to reduce the migraine attacks. Some of the vitamin B2 rich foods include mushrooms, salmon, and certain grains. 

What are the symptoms of migraines?

Some of the common symptoms of migraine include:

How long does a migraine last?

A migraine can last anywhere between four hours to three days. The frequency is also highly variable, where some people may get it once or twice a week while others get it once a year. 

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

What is happening to the brain during a migraine?

The starting point is the excitation of a nerve called the trigeminal nerve, which is responsible for facial sensation. Activation of the trigeminal nerve causes the release of a load of neurotransmitters. This causes pain sensation in the temple and near the eyes. When untreated, this results in the blood vessels around the brain exploding. This goes on to trigger the central nervous system (CNS), where the pain becomes omnipresent. Here, it becomes very difficult to control the pain, and it lasts for as long as a few days.

Do migraines damage your brain?

It has been studied that migraineurs have more brain lesions and white matter abnormalities compared to non-migraineurs, which poses them at serious risk of brain damage. 

Can migraines change your personality?

Severe mood changes are noticed before the migraine sets in, during a period called the ‘prodrome.’ This leads to individuals showing hyperactivity, anxiety and elevated mood, or inability to think and concentrate, depression, quietness, and other mood disorders.

What is the difference between a headache and a migraine?

The pain felt during a headache is more diffused, spread around the back of the head and near the neck. A migraine attack imposes a more pulsating pain in the front and sides of the head and is indefinite. A headache merely causes pain, but migraines cause dizziness, nausea, increased sensitivity, and flashing lights in the eyes.

What is aura migraine?

An aura migraine is a condition where a migraine attack causes symptoms affecting vision. People often complain of seeing flashing or shimmering spots of light, zigzag patterns, and blind spots. The fact that the number of people reporting this is high does not make up for its unpredictability. Some of the other temporary disturbances associated with aura migraine include muscle weakness, numbness, and difficulty in speech.

What causes migraine in females?

The extreme fluctuations in hormones during a menstrual cycle predisposes women to suffer from migraines frequently. Additionally, oral contraceptives and other medications used by women often affect their hormonal balance. These lead to an increased number of women reporting migraine attacks compared to men.

How do you diagnose migraines?

MRI and CT scans are the go-to diagnostics for a suspected migraine activity. Doing blood tests and a spinal tap procedure might help the clinician to identify any infection or bleeding in the spinal cord or brain. Family history mapping and neurological assessments are also done for a comprehensive diagnosis.

Can migraines be mistaken for a stroke?

Migraine and stroke both happen in the brain, and in certain cases, the symptoms shall mimic a stroke. However, the triggers for both of these conditions are different. Migraine has been studied to prove as a risk factor for stroke. A stroke occurs as a result of decreased oxygen supply to the brain, and a migraine arises from a completely different body condition. Thus, it is quite difficult to confuse the two conditions.

What is the best way to prevent migraines?

Doing the following could relieve migraine pains :

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Is there a permanent cure for migraines?

For a condition like a migraine, there are barely any permanent cures. Essential oils like lavender, peppermint, and foods rich in magnesium are useful to thwart migraines.

How can I stop migraines from re-occurring?

The key is an early diagnosis. Understanding the cause and eliminating it from your lifestyle can go a long way in preventing further migraine attacks. Migraines usually begin with a dull ache, which will suddenly turn into severe, pulsating pain. The best way to avoid them is by ensuring that your eating and sleeping cycles are proper, staying hydrated, and indulging in regular exercises.

Are there pressure points to relieve migraines?

For those of you with a leaning towards acupressure, here are some ideas for you. Applying pressure on certain points can be highly effective in alleviating headaches. Pressing the region between your thumb and forefinger, called the Union Valley, relieves head and neck pain. Drilling bamboo points (the sides of the bridge of your nose) and the Third Eye (between the eyebrows) will help relieve eye-strain and sinus pain when massaged.

Can exercise cause a migraine?

With increasing awareness about fitness, another point to be noted is that while exercising, there is an increase in blood pressure as a result of which individuals with compromised arterial systems are at risk. This can be combated by staying hydrated and eating properly before exercising.

References

  1. https://www.ncbi.nlm.nih.gov/pubmed/20147657
  2. https://thejournalofheadacheandpain.biomedcentral.com/articles/10.1186/s10194-019-1025-9
  3. https://n.neurology.org/content/74/8/622

Xcode Life's Gene Health Report analyzes the genetic variants for migraines. Our Gene Health Report covers type 2 diabetes, hypertension, heart disease, obesity, and more than 45 categories of health-related traits.

Updated 12 May, 2020

What is Bloom syndrome?

Bloom Syndrome is also known as Bloom-Torre-Machacek syndrome.

It is an autosomal recessive disorder that is characterized by short stature, a rash that develops on exposure to the sun and an increased risk of developing cancer.

The skin rash that develops is often a butterfly-shaped patch of reddened skin across the nose and cheeks.

The rash can also develop in other areas of the body that get exposed to the sun.

People with Bloom syndrome also have:

  1. High-pitched voice
  2. Long and narrow face
  3. Small lower jaw and
  4.  Prominent nose and ears

Who is affected by Bloom syndrome?

Bloom syndrome is a rare disease and only about 275 cases have been reported so far.

It can be seen in many ethnic groups but is more common is the Ashkenazi Jews, who have Polish or Ukrainian ancestry.

They also have a high carrier frequency with 1 in every 100 people being a carrier of the mutation.

What is the cause of bloom syndrome?

Bloom syndrome is an autosomal recessive trait.

The gene responsible for this syndrome has been traced to band 26.1 on the q arm of chromosome 15.

This part is responsible for the production of the protein BLM.

A single mutation of the gene, known as BLMAsh is responsible for most Bloom Syndrome cases among the Ashkenazi Jews.

Protein RecQ helicase is controlled by the gene for Bloom syndrome and is involved in cell repair, cell division, and cell death.

The condition is presumed to result from a defect in the cell’s DNA repair mechanism.

What is the treatment for Bloom syndrome?

Currently, there is no treatment for Bloom syndrome.

The treatments provided today are only symptomatic and supportive.

Affected individuals are often hypersensitive to DNA damaging chemicals and radiation therapies that are done for cancer treatments.

Hence, these treatments need to be modified for those suffering from Bloom syndrome.

People with the condition, especially infants and kids, are advised to avoid sun exposure to the face and back.

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

Treatment of Manifestations

Since the exposure to the sun leads to the appearance of a butterfly-shaped rash, skin protection is an important part of the treatment of the symptoms.

This includes coverage of exposed skin and the use of broad-spectrum sunscreen of at least 30 SPF.

Another clinical manifestation of Bloom syndrome is a short height or stature.

So, many clinicians promote hormone treatment to improve linear growth.  

However, many clinicians caution against this due to the early onset of cancer in some children who were treated in the past.

Other treatment measures include insulin resistance seen in type 2 diabetes and reduced intensity or dose of chemotherapy dosage.

People with recurrent infections and defects in humoral immunity are treated with gamma globulin infusions that help decrease the frequency or severity of the infection.

Can Bloom syndrome be prevented?

Bloom syndrome today cannot be prevented as it is a genetic disorder.

But, it is advisable to undergo a genetic test in case there seems to be an increased risk of developing the syndrome.

Expecting parents can undergo a prenatal genetic test to diagnose the genetic profile of the unborn child for bloom syndrome.

If there is a family history of the condition, genetic counseling is helpful to plan a child.

There is a lot of research currently underway to find ways to prevent and treat the syndrome.

You might also like: Carrier Status- Are You A Genetic Carrier For Certain Diseases?

How prevalent is Bloom's syndrome?

Bloom syndrome is a very rare disease but its exact frequency is unknown to date.

Every 1 in 48,000 Ashkenazi Jews is affected by the disease. About 1.3rd of the people with the disease are of Ashkenazi Jewish descent.

How is Bloom syndrome inherited?

Bloom syndrome is inherited in an autosomal recessive manner.

This means that one needs to have two positive alleles of the gene to develop the syndrome.

If someone has one allele for the syndrome, it means that the person is a carrier of the disease.

Two carrier parents have a 25% chance to give birth to a child with Bloom Syndrome.

How does Bloom syndrome affect the body?

Bloom syndrome is evident right from the time a child is born.

They are exceptionally small in size and fail to grow up normally.

They fail to reach even 5 ft in height in adulthood.

Other features of Bloom syndrome include:

Skin Effects

  1. Pigmentation on the sun-exposed areas.
  2. Crusting and bleeding of lips
  3. Skin problems get aggravated on exposure to the sun
  4. Butterfly distribution and redness of the skin of the face.

Facial skeleton and body features:

  1. Bird-like face with a narrow, prominent nose
  2. Abnormally long limbs(in comparison with the body)
  3. Large protruding ears
  4. High pitched voice
  5. Decreased IgA and IgM
  6. Increased susceptibility to cancer like skin cancer, leukemia, and solid organ cancer
  7. Infertility is seen in both men and women

What is the BLM gene?

The BLM gene mutation is responsible for the development of Bloom Syndrome.

The BLM gene is responsible for giving instructions for the synthesis of a protein known as RecQ helicases.

These helicases attach to the DNA and unwind or uncoil the two spiral strands, which are needed for the various processes and cell functions.

Since these proteins help in maintaining the structure of the DNA, they are called as ‘caretakers of the genome’.

To know more about Should I Get a 23andme Health Report or Xcode Life Health reports? Click here.

Surveillance for individuals with bloom syndrome

Patients with Bloom syndrome are at an increased risk of developing different types of cancers.

To monitor such patients, an abdominal ultrasound is done every 3 months until the child turns 8 years to detect or diagnose a Wilms tumor.

The family is screened and educated about the signs and symptoms of lymphomas and leukemia.

Until the age of 13 years, a full-body MRI is done once in every 1-2 years and an annual colonoscopy after the child turns 10.

If a girl is affected, an annual breast MRI is done once she turns 18 years of age.

Other regular blood investigations are done regularly to keep parameters under check.

Annual TSH serum level tests are done from the age of 10 yrs. Annual lipid profile tests are started at 10 years of age.

Some facts about bloom syndrome

People suffering from Bloom Syndrome have high instability in their chromosomes.  Due to this:

Bloom syndrome and the risk of cancer

Since the syndrome is due to an instability of the DNA, it goes without saying that this instability is one of the prime causes for the development of cancer in these individuals.

Individuals with Bloom syndrome have an increased susceptibility to various types of cancers and about 50% of the people will develop cancers like leukemias and lymphomas.

Bloom syndrome and risk of cystic fibrosis

People with an Ashkenazi Jewish ancestry are carriers of certain disease conditions including Bloom Syndrome and Cystic Fibrosis.

This group of people has a 20-25% chance of developing either of these two or other genetic conditions like Gaucher’s disease, Tay-Sach disease, etc.

However, there is no direct connection between the two diseases.

Bloom syndrome and chronic obstructive pulmonary disease risk

Individuals with Bloom Syndrome have an increased risk of developing systemic conditions like diabetes, a chronic obstructive pulmonary disorder, immune system-related conditions, and recurrent upper respiratory tract infections.

Xcode Life’s Carrier Status Report provides information on inherited conditions based on the genetic variants for more than 275 such traits.

References:

  1. https://ghr.nlm.nih.gov/condition/bloom-syndrome
  2. https://rarediseases.org/rare-diseases/bloom-syndrome/
  3. https://www.ncbi.nlm.nih.gov/books/NBK1398/
  4. https://www.ncbi.nlm.nih.gov/books/NBK1398/
  5. https://ghr.nlm.nih.gov/condition/bloom-syndrome
  6. https://ghr.nlm.nih.gov/gene/BLM
  7. https://www.ncbi.nlm.nih.gov/books/NBK1398/
  8. https://www.ncbi.nlm.nih.gov/medgen/2685

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:

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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 “87” not found /]

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:

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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.

What is Rheumatoid arthritis?

Rheumatoid Arthritis (RA) is an autoimmune disease which affects about 1.5 million individuals in the United States.

It occurs when a person's immune system that normally functions by attacking foreign substances such as bacteria & viruses, mistakenly attacks the joints and creates inflammation.

The tissues lining inside the joints start to thicken which results in pain and swelling around the joints.

When the inflammation goes unchecked, it damages the cartilages covering the ends of the bones.

Over time, it results in complete loss of cartilage, causing pain in the joints and thus affecting mobility.

Such damage to the joints cannot be reversed but when diagnosed early, aggressive treatments may help.

What are the first signs of rheumatoid arthritis?

Joint pain and stiffness are the main signs of RA.

There are a few warning signs, especially those specific to joint pain that is indicative of RA, particularly if either or both joints are affected.

Given below is a list of some warning signs of RA:

  1. Fatigue
  2. Slight fever
  3. Weight loss
  4. Stiffness
  5. Joint pain
  6. Joint tenderness
  7. Joint swelling
  8. Joint redness
  9. Joint warmth
  10. Numbness & tingling
  11. Trouble bending the wrist back and forth
  12. Joints affected on both sides

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What is the main cause of rheumatoid arthritis?

RA is an autoimmune disease caused by the body's immune system mistakenly attacking the healthy body tissue.

Various theories attempt to explain why the immune system starts to attack the joints, although none have been proved.

The following are some of the risk factors for RA:

Genes: There's evidence that RA can run in the families but the risk of inheriting it is thought to be low since genes are only thought to play a very small role.

Hormone: RA is more prevalent in women than men, which indicates the role of estrogen hormone (although this association has not been proven yet)

There is also some evidence that smoking increases the risk of RA.

What is the rheumatoid factor?

Rheumatoid factor test is a blood test primarily used to diagnose RA.  

Rheumatoid factors are the proteins synthesized by the immune system which attacks healthy tissues in the body in the blood.

The amount of rheumatoid factors in the blood is measured by the rheumatoid factor test.

During the test, a small sample of blood is drawn from a vein in one's arms and sent to the laboratory for getting tested.

A positive rheumatoid factor test result indicates that the level of rheumatoid factor in the blood is high.

But it is important to note that for some people with RA, the levels of rheumatoid factor in the blood might be low; it might also be high in some healthy people without the disease.

A high rheumatoid factor level is associated with rheumatoid arthritis and a number of other diseases like cancer, sarcoidosis, chronic infections, Sjogren's syndrome, lupus, etc.

How long does someone live with rheumatoid arthritis?

Due to the vast number of unpredictable variables involved in RA, the life expectancy of an affected person can be difficult to calculate.

Research emphasizes that it is not the disease itself that reduces a patient's life expectancy, but it is the varying complications which can shorten the life expectancy.

It can sometimes cause respiratory and cardiovascular conditions that might lead to a shortened lifespan and eventually even become fatal.

In general, it is believed that RA shortens life expectancy by about 10-15 years.  

Where does rheumatoid arthritis usually start?

The symptoms of RA usually come and go, and might progress over a period of weeks or months.

Fatigue is the first sign of RA and is usually experienced before the onset of other symptoms.

Fatigue could be accompanied by depression or a feeling of ill health.

One could also experience morning stiffness, joint stiffness, joint pain, fever, minor joint swelling, decrease in range of motion, numbness & tingling, weight loss, difficulty in sleeping, dry mouth, loss of appetite, eye discharge, etc during the early stages of development of the disease.

Is rheumatoid arthritis curable?

There isn't any known cure for RA currently.

A healthy diet, appropriate rest, regular physical activity and stress management can help improve the quality of life among RA patients.

OTC medications and complementary treatments are also available for relieving pain and reducing inflammation.

Let’s take a look at some of the options:

At what age does arthritis usually start?

Most commonly, arthritis usually starts between ages 30-50. However, it might be surprising to learn that individuals of any age including children can get arthritis.

Younger people who suffer joint pain, swelling or stiffness might not even consider arthritis to be the cause.

What is end-stage rheumatoid arthritis?

At the end stage of RA, the inflammatory process stops and joints cease to function altogether.

The main symptoms of this stage are pain, swelling, stiffness, and loss of mobility.

Can you inherit rheumatoid arthritis?

Usually, people with RA have little to no family history of it.

Many of the genetic areas that are linked to RA are also associated with other autoimmune diseases like lupus, celiac disease, inflammatory bowel disease, etc.

However, the following two genes are reported to be involved with the development of RA:

The HLA-DRB1 gene: The strongest known genetic risk factor associated with an increased risk for developing RA.

It has been observed that those who possess variants of this gene and also smoke might be at a higher risk of developing RA.

The PTPN22 gene: Though there isn't much clarity about how this gene predisposes one to autoimmune diseases, it is known to be linked to a stronger likelihood of developing RA.

How quickly does rheumatoid arthritis develop?

RA typically begins in an insidious manner with signs and symptoms developing slowly over weeks to months.

The patients notice stiffness in joints usually accompanied by pain while moving and tenderness in the joints.

From time to time, patients experience symptoms developing in multiple joints within 24-48 hours.

In another pattern of development, the patients might experience swelling in either or both the joints which may last for a few days to weeks and then completely disappear to return later in some other joints in such a way that it gets worse over time.

What happens if you leave rheumatoid arthritis untreated?

If left untreated, one could experience unfortunate outcomes such as chronic pain, disability, and excess mortality.

About 80-85% of cases could experience joint damage and untreated patients are twice as likely to die compared to normal people their age.

The disease is also associated with higher risks for anemia, lymphoma, osteoporosis, and depression.

How painful is rheumatoid arthritis?

RA can cause pain, swelling, and deformity.

Symmetric pain in multiple joints is a typical symptom of RA and is the symptom that differentiates it from other types of arthritis. 

One might feel pain in both left and right hands, knees and/or wrists.

Joint pains can range from mild to moderate or even severe.

It can sometimes feel like a sprain or a broken bone.

Certain areas of one's body might even get painful to touch.

Apart from pain, RA also causes stiffness in the joints that are affected, which can make mobility difficult.

What is the most painful type of arthritis?

Gout is the most painful type of arthritis which causes intense pain, swelling, and joint stiffness.

This kind of arthritis is caused by excess uric acid in the bloodstream which crystallizes, causing inflammatory arthritis in the joints that leads to pain.

What causes rheumatoid arthritis to flare-up?

The following are the triggers of RA flare-up:

  1. Overexertion
  2. Stress
  3. Infection
  4. Poor sleep
  5. Untreated RA
  6. Discontinuing RA treatment

Do I have rheumatoid arthritis or fibromyalgia?

Although RA and fibromyalgia share some symptoms, they are both unrelated and have different causes.

While fibromyalgia causes pain, stiffness, and tenderness in connective tissues and muscles throughout the body, RA causes pain, swelling, and tenderness in joints.

Fibromyalgia is a chronic neurological condition, whereas, RA is an autoimmune condition.

Symptoms specific to Fibromyalgia:

Symptoms specific to RA:

What is the best vitamin for rheumatoid arthritis?

Diet plays a vital role in many chronic conditions like RA and it is important that individuals suffering from RA get adequate vitamins, minerals, and other nutrients to help relieve symptoms and lower their risks of complications.

Vitamin D is especially important for RA patients since certain RA medications could put them at risk of vitamin D deficiencies that might lead to other complications.

Since RA is an autoimmune disorder, vitamin D which plays an important role in the immune system might help.

It can also help reduce inflammation.

It is recommended that RA patients get their vitamin D levels checked and take supplements if required.

Other vitamins that help RA patients are:

Vitamin E potent antioxidants that decrease damage to the linings of joints and reduces pain and swelling.

Folic acid & bromelain that have anti-inflammatory & pain-relieving properties.

What is rheumatoid arthritis diet?

It has been identified that RA patients should follow a certain diet that includes certain foods which can help control inflammation.

Here's a list of ideal foods for RA patients:

Omega-3 containing fish like salmon, tuna, sardines, anchovies can reduce a couple of inflammatory proteins like C-reactive proteins (CRPs) and interleukin-6.

Anti-oxidant rich fruits & vegetables like blueberries, strawberries, blackberries, cherries, spinach, broccoli, and kale can support the immune system to fight inflammation.

Monounsaturated fat-rich nuts and seeds such as walnuts, pine nuts, almonds, and pistachios helps fight inflammation and can also help reduce weight since they're rich in protein and fiber.

Pinto, black and red kidney and garbanzo varieties of beans that contain antioxidant and anti-inflammatory compounds.

Onions are rich in beneficial antioxidants which may reduce inflammation and reduce bad cholesterol.

Fibers can lower CRPs that are responsible for inflammation.

Carotenoid-rich foods like carrots, peppers, etc also lower CRP.

Are tomatoes bad for arthritis?

Tomatoes are often thought to make arthritis worse.

This is because it produces a toxin called Solanine which is believed to cause inflammation, swelling and joint pain.

However, there is no known relationship that exists between tomato consumption and arthritis pain.

Is banana not good for arthritis?

Bananas being a rich source of vitamin B-6, folates and vitamin-C can help arthritis patients by aiding the production of collagen that serves as a building block for joints.

They also help in the eradication of joint-destroying free radicals that increase the body's intake of B vitamins that might be depleted by the inflammation caused by arthritis.

However, some websites caution that bananas should be avoided as it aggravates arthritis.

Is coffee bad for rheumatoid arthritis?

Although coffee contains antioxidant polyphenols and is believed to protect against gout, it is also believed that it can increase one's risk for osteoporosis. Thus, it is best to follow the thumb rule of consuming in moderation (not more than a couple of cups daily).

What foods should be avoided with rheumatoid arthritis?

Can rheumatoid arthritis get worse?

Living with RA can be like a rollercoaster ride when symptoms get suddenly good or extremely worse.

There are certain foods, activities or situations that can trigger the symptoms and understanding them can help manage RA.

Some of these triggers include:

  1. Stress
  2. Lack of adequate sleep
  3. Consumption of foods like beef, pork, bacon, wheat, rye, milk, coffee or processed foods.
  4. Overexertion
  5. Infections
  6. Pregnancy
  7. Smoking

Is exercise good for rheumatoid arthritis?

How can I reduce arthritis inflammation?

Various treatment options are available for inflammatory joint diseases like medications (NSAIDs, corticosteroids, biologic therapy, and narcotic pain relievers), rest, exercise and surgery to correct joint damage.

The prescribed treatment option will depend on factors such as the type of arthritis, the patient's age, medications taken, medical history, overall health, and severity of symptoms.

What is the correlation between rheumatoid arthritis and multiple sclerosis?

Studies suggest that MS diagnosis increases the likelihood of a subsequent diagnosis of RA in patients independent of attributes like age, gender and smoking history.

The findings also suggest that the pain associated with RA limit mobility, physical activity and disrupt normal activity in MS patients.

Also, depression and anxiety that are more prevalent in MS lead to higher disease activity, subclinical atherosclerosis, and mortality in RA patients.

Thus co-occurrence of these two conditions might represent a disease entity that might require aggressive treatment.

What is the correlation between rheumatoid arthritis and Alzheimer's disease?

RA increases one's risk for Alzheimer’s disease.

Although RA is a kind of arthritis affecting joints, it is also a chronic autoimmune disease that promotes the release of cytokines that spreads inflammation throughout the body.

Inflammation can increase the production and deposition of amyloid proteins- that are responsible for Alzheimer’s disease.

It is also suggested that both RA and Alzheimer's require an environmental trigger for genetic predisposition.

A specific cytokine- tumor necrosis factor alpha contributes to both the inflammatory process of RA as well as the development of Alzheimer's disease.

What is the correlation between Rheumatoid arthritis and celiac disease?

Both celiac disease and RA are autoimmune diseases that share comparable environmental influences and associated antibodies.

Pathophysiologically, both of them are mediated by endogenous enzymes in the target organs and both of them share multiple non-HLA loci - the genes that are important for activating and regulating adaptive and innate immunity.

What is the correlation between Rheumatoid arthritis and cystic fibrosis?

RA can cause chronic joint pain and affect other organs like the lungs and cause severe breathing problems.

Also, using anti-inflammatory medication can increase a person's risk of developing pulmonary fibrosis.

Although the link between RA and cystic fibrosis isn't fully understood, it is estimated that about 40% of RA patients have pulmonary fibrosis.

References:

https://www.nhs.uk/conditions/rheumatoid-arthritis/causes/

https://www.ncbi.nlm.nih.gov/pubmed/20205741

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4937922/

https://www.ncbi.nlm.nih.gov/pubmed/26190704

Xcode Life’s Personality Report provides information on openness, extraversion ness, intelligence,  entrepreneurship potential, and more than 25 such traits.

Familial Hypercholesterolemia (FH) is a condition characterized by elevated levels of ‘bad’ or low-density lipoprotein (LDL) cholesterol.

This condition occurs in nearly 1 in 500 individuals.

According to the European Atherosclerosis Society, there is a 13 fold increased risk of coronary heart disease for people with FH.  

What’s more? Nearly 90% of FH patients remain undiagnosed!

Familial Hypercholesterolemia Genes

Cholesterol is a precursor for many molecules like vitamin D, bile acids, and even steroid hormones.

It forms the lipid component of cell membranes, aiding in stabilizing, and maintaining the integrity of the membrane.

Nearly one-fifth of circulating cholesterol is from the diet consumed.

High intake of cholesterol-rich foods increases serum cholesterol levels temporarily, with a reduction in levels after about seven hours.

Cholesterol is synthesized primarily in the liver, intestines, adrenal gland, and in the reproductive organs.

Cholesterol transport

LDL particles transport cholesterol from the liver to the extremities, while HDL particles transport cholesterol from the extremities back to the liver, where it is removed from the body.

The genes associated with familial hypercholesterolemia are LDLR, which codes for the LDL receptor, APOB that codes for apolipoprotein B100, and PCSK9 genes that code for proprotein convertase subtilisin/Kexin type 9, which promotes intracellular degradation by binding to LDLR.  

80% of FH incidences are due to variations in the LDLR genes, followed by variations in the APOB and PCSK9 genes.

Xcode Life's Gene Health Report provides information about familial hypercholesterolemia.

An understanding of risk will help in the initiation of therapeutic strategies that can lower risk.

 Have Your 23andMe Raw Data? Use It To Get 500+ Health-Related Genetic Traits!

How can you find out your genetic risk for familial hypercholesterolemia risk?

Upload your 23andme, Ancestry DNA, or FTDNA raw data to find out if you have the genetic variants associated with increased risk of familial hypercholesterolemia.

What can you do with this information?

There is a complex relationship between genes and the environment with factors like diet and lifestyle also playing a role in the outcome.

Therefore, the information obtained from your health genetic report can be used to tailor diet and lifestyle to lower the risk of diseases.

The health report should be interpreted only by a qualified health care practitioner.

This report generated using raw data from ancestry tests and has limitations.

Only an exome report is clinically certified to diagnose disease conditions.

Xcode Life Gene Health Report currently offers 50+ reports spanning 700+ health-related categories.

What is Marfan syndrome?

Marfan syndrome is a genetic disorder which affects the body’s connective tissue.

Connective tissues play a vital role in helping growth and development.

It also holds together all the body’s cells, tissues and organs together.

Since connective tissues exist throughout the body, Marfan syndrome can affect several parts of the body.

Mutations in the genes that synthesize protein fibrillin-1 results in increased levels of TGF-β(protein transforming growth factor beta) which affects the connective tissues throughout the body, leading to Marfan syndrome.  

What is the life expectancy of a person with Marfan syndrome?

Although Marfan syndrome is a lifelong condition, its outlook has been improving in recent times.

During the 1970s, the life expectancy of an individual with Marfan syndrome was two-thirds that of a normal person.

However, with improvements in diagnosis and treatment, individuals with Marfan syndrome now have a life expectancy on par with an average person.

How does Marfan syndrome affect the body?

Apart from playing a vital role in growth and development, the connective tissues hold the body together.

Since it is found throughout the body, Marfan syndrome affects many parts of the body including the cardiovascular system, skeletal system, eyes, lungs, and skin.

Does Marfan syndrome affect the brain?

The brain and the spine are surrounded by a fluid called “dura” which is composed of connective tissue.

Marfan syndrome causes the enlargement of this dural membrane, causing dural ectasia which affects more than 60% of Marfan syndrome patients.

Although dural ectasia doesn’t cause any issues, it might sometimes cause headache, back, abdominal and leg pain.

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

How does Marfan syndrome affect the eye?

Eye problems such as astigmatism and myopia occur commonly in Marfan syndrome patients.

And more than 50% of them suffer from ectopia lentis which occurs as a result of the dislocation of the eye’s lens that helps focus light rays on the retina.

Ectopia lentis is also a key symptom of Marfan syndrome and is the first sign of the disorder.

Other eye problems affecting Marfan syndrome patients include glaucoma, strabismus, early cataract, retinal detachment and thinning of the cornea.

Does Marfan syndrome increase the risk of pneumothorax?

Pulmonary complications are quite common among many people with Marfan syndrome, and pneumothorax is one of the most common ones.  

It is also known as “collapsed lung” which is the detachment of the lungs from the chest wall.

In Marfan syndrome patients, pneumothorax can be recurrent, seen in both the lungs and can also be associated with emphysema.

Can someone with Marfan syndrome gain weight?

Doctors do not understand why individuals with this condition find it difficult to gain weight.

They cannot be benefited from any particular diet, dietary supplement or weight lifting programs.

Since it puts too much strain on the heart and aorta, weight lifting is not a safe activity for people with Marfan syndrome.

However, with age, some people with Marfan syndrome do put on more weight.

Therefore, developing healthy eating habits is important for Marfan syndrome patients even though it may not make them gain weight.

How is Marfan syndrome diagnosed?

Being a serious, life-threatening condition, an early and accurate diagnosis is very important for Marfan syndrome.

Doctors experienced with connective tissue conditions make several exams of different parts of the body to diagnose the condition.

Thorough physical exam, detailed medical and family history, and the following tests are taken into account to diagnose Marfan syndrome:

  1. Echocardiogram
  2. Electrocardiogram
  3. Eye exam
  4. CT scan or MRI scans of the lower back

When all the tests mentioned above fail to diagnose Marfan syndrome, genetic testing may be helpful.

Especially for those with a family history of the condition, genetic tests can rule out or confirm the diagnosis.   

Is there genetic testing for the diagnosis of Marfan syndrome?

Genetic testing which is now improved and affordable can reveal mutations in the fibrillin-1 (FBN1) and other related genes that are known to be responsible for Marfan syndrome.

If you are suspecting a diagnosis when there is no family history, a genetic test can find out if you possess a mutated FBN1 gene and if that mutation is linked to Marfan syndrome or not.

However, to confirm a diagnosis, a combination of genetic testing along with the presence of clinical features should be considered.

What is the cause of Marfan syndrome?

The FBN1 gene instructs the synthesis of the protein fibrillin-1.

When this protein binds to other fibrillin-1 proteins and molecules, it forms microfibrils, a threadlike filament.

These microfibrils are those that offer flexibility and strength to the connective tissues.

When this FBN1 gene gets mutated, it can cause a reduction in the amount of functional fibrillin-1, leading to lowered microfibril formation.

This results in decreased elasticity in tissues, leading to instability and overgrowth of tissues in Marfan syndrome.

What are the symptoms of Marfan syndrome?

Even amongst the individuals of the same family, signs, and symptoms of Marfan syndrome vary.

While some people experience mild symptoms, others develop life-threatening complications.

The most common features of this condition include:

  1. Tall, slender build
  2. Long arms, legs, and fingers that are disproportionate
  3. Breastbone protruding outward or dipping inwards
  4. Flat feet
  5. Heart murmurs
  6. Nearsightedness at its extreme
  7. Abnormally curved spine
  8. Crowded teeth along with a high, arched palate

How is Marfan syndrome treated?

Although there isn't any cure for Marfan syndrome, there are treatments that focus on preventing the complications of the condition.

Regular monitoring and current treatments have improved the life expectancies of individuals with Marfan syndrome.

Treatment options include:

  1. Medications that are prescribed for lowering blood pressure to prevent the enlargement of aorta and thereby reducing the risk of rupturing and dissection.
  2. Surgical procedures such as aortic repair, scoliosis treatment, breastbone corrections, and eye surgeries
  3. Glasses or contact lenses to correct the dislocated lens in the eyes.
  4. Lifestyle changes and home remedies like avoiding competitive sports, weightlifting and performing less intense activities like bowling, brisk walking or golf.
  5. Practical supports like contact lenses, scoliosis braces, dental works, and suitable clothes
  6. Treating aortic diseases in patients with Marfan
  7. Noninvasive treatment for aortic diseases includes β-blockers of an adequate dosage earlier in the disease's course to gain potential benefits.
  8. Surgical treatment of aortic disease includes prophylactic surgery, composite valve graft repair, valve-sparing aortic repair, and Endovascular stent grafting.

Is Marfan syndrome more common in males or females?

The risk of passing the abnormal gene from a parent with Marfan syndrome to their offspring is the same for both genders.

Throughout the world, Marfan syndrome affects both males and females in equal numbers, without any ethnic predispositions.

Can Marfan syndrome skip a generation?

The inheritance of Marfan syndrome occurs in an autosomal dominant manner, and hence it doesn't skip any generations.

Symptoms show up with the presence of just a single copy of the mutated gene.

MTHFR gene and Marfan syndrome

Researchers from the University of Florence have reported the possible role of a mutation in the MTHFR gene in the cardiac manifestations of Marfan syndrome.

They have also found a higher prevalence of homozygote with the C677T MTHFR polymorphism.

Is Marfan syndrome accompanied by changes in homocysteine levels?

Homocysteine is responsible for the pathogenesis of the vascular changes in Marfan syndrome patients.

Higher levels of homocysteine have been reported to cause severe vascular changes including aortic dissection in Marfan syndrome patients with the most severe vascular changes.

Renowned personalities who have been diagnosed with Marfan syndrome

Can people suffering from Marfan syndrome get pregnant?

Family planning decisions can be hard and quite emotional for couples affected by genetic disorders such as Marfan syndrome.

Pregnancy constitutes to added risks to women with Marfan syndrome due to the stress on the heart and blood vessels.

It is essential that women with this condition discuss the possible pregnancy risks with their doctors before planning to get pregnant.

Although there is no clarity if women with Marfan syndrome can or cannot tolerate pregnancy, Marfan syndrome patients should consider these aspects before deciding:

Does Marfan syndrome cause infertility?

Mostly associated with abnormalities in connective tissues, primarily affecting the ligaments, bones, cardiovascular system, lungs, eyes and skin, Marfan syndrome doesn't cause infertility.

However, the condition can be passed on to the offspring from either of the parents.

Can someone with Marfan be active in sports?

Although individuals with Marfan syndrome benefit from regular physical activities, it is recommended that they stick to low-intensity and low-impact activities to prevent undue stress on the aorta.

They should also refrain from taking part in strenuous activities such as weightlifting and competitive sports due to this reason.

How to manage Marfan syndrome through natural ways?

Some natural strategies to manage Marfan syndrome include:

  1. Avoiding stress on the heart by avoiding strenuous physical activity, following a heart-healthy diet.
  2. Optimize vision by taking yearly eye exams, correcting vision using glasses/contact lenses and protecting the eye during activities.
  3. Take care of your teeth by following good dental hygiene practices,
  4. Get emotional support via cognitive behavioral therapy
  5. Quit smoking to avoid lung problems. Plan pregnancy carefully after consulting a genetic counselor.

Diet recommendations for Marfan’s Syndrome

Some dietary tips for managing the symptoms of Marfan syndrome:

Include natural anticoagulants such as turmeric, cinnamon, fish and cayenne pepper to lower the viscosity of your blood to minimize the risk of blood clots from forming in the aorta.

Consider foods such as dark leafy greens, lean meat, garlic, fruits and fish to boost your blood vessels and strengthen them.

Consume vitamin-A rich, eyesight promoting foods such as eggs, dairy products, and carrots.

What everyday variables does Marfan syndrome affect?

Physical fitness and sports can be an issue since strenuous activities should be avoided among individuals with Marfan syndrome.

They can also face problems due to fatigue.

They cannot smoke since it destroys the protein elastin.

Family planning can also be a strenuous task due to all the potential risks involved.

Is Marfan syndrome painful?

Dural ectasia which is characteristic of Marfan syndrome can cause low back pain, leg pain, abdominal pain, and headaches.

Hip pain is also common since Marfan syndrome patients have deeper hip sockets.

How’s pectus carinatum treated?

Pectus carinatum can be treated via non-surgical bracing and surgery.

Dynamic compression braces are comfortable to wear and avoid the breakdown of skin that occurs with traditional ones.

Can Marfan syndrome be detected before birth?

Prenatal testing done between 10 and 12 weeks of pregnancy can detect Marfan syndrome.

Amniocentesis done between 16 and 18 weeks of pregnancy can also detect Marfan syndrome.

While these tests can find out if the child possesses the faulty gene, they cannot indicate the severity of the condition.

What are the four types of heart diseases?

For an organ as complex as the heart, many types of diseases can be observed. The most common ones are:

  1. Congenital heart diseases
  2. Irregular heart rate
  3. Cardiomyopathy
  4. Coronary artery diseases
  5. Myocardial infarction
  6. Mitral valve prolapse

What are the signs and symptoms of heart disease?

Although heart failure is usually a result of existing heart disease, its onset can largely be identified by

  1. Severe angina (chest pain)
  2. Sudden shortness of breath
  3. Arrhythmic heartbeat
  4. Coughing pink mucus

The above, along with fainting/dizziness is observed.

How do I know if my chest pain is indicative of a heart attack?

Chest pain is one of the most dangerous symptoms of many diseases, among which heart attack is one.

This makes it difficult to correctly identify whether the pain in the chest is symptomatic of a heart attack.

If the pain is sharp and distinguishable from a location, it is usually not a heart attack.

On the other hand, pain indicative of heart attacks is diffused, dull and yield heavy discomfort.

Often, doctors get panic calls from patients experiencing pain that stings while taking a breath, or something similar to acidity.

These are associated with non-cardiac ailments ranging from physical injury of the ribs to acid reflux to pleurisy.

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What are the leading causes of heart disease?

With increased research being done in the field of cardiovascular diseases, plenty of reasons for the onset of heart diseases have been found.

Broadly, they can be classified into the following types:

  1. Arrhythmic heartbeats (slower or faster than usual)
  2. Congenital heart defects
  3. Weak heart muscles
  4. Heart infections (like Endocarditis)
  5. Damaged valves

Based on the ECG pattern, heart attacks can be classified as:

Does smoking cause heart diseases?

Beyond causing cancer, smoking has also been found to predispose the smoker to heart attacks.

Smoking along with taking birth control pills increases the threat.

Studies have shown that the active ingredient in cigarettes, nicotine, reduces the oxygen-carrying capacity of the blood.

This directly leads to an increase in blood pressure.

Damage to the inner lining of blood vessels and the heart is also observed.

These threats are imminent not just for active smokers, but also for passive neighbors.

How does poor dental health lead to heart disease?

At first glance, this might seem unbelievable. But research has shown that gum diseases increase the risk of heart disease.

Due to poor dental health, a bacterial infection may set in through the oral orifice, which leads to an attack on the heart vessels.

Simultaneously, clinicians have reported loss of teeth in correspondence with Coronary Artery Diseases (CADs).

Can your thyroid levels affect your heart?

The Thyroid Stimulating Hormone (TSH) secreted by the pituitary gland and T4 produced by the thyroid gland are hormones which are involved in the regular functioning of many organs.

Imbalances in these hormone levels cause conditions that may lead to heart disease.

Unlike other causes, thyroid levels can be set back to normalcy with adequate medications.

In hypothyroidism, TSH levels are elevated, which causes the arteries to lose their elasticity.

This indicates an increase in blood pressure.

Another side effect of hypothyroidism is a metabolic imbalance, which gradually leads to deposition of cholesterols along the arteries, paving the way for coronary heart disease.

Hyperthyroidism is caused as a result of increased T4 levels.

This hormone stimulates the heart muscles and causes an elevation in heart rate.

Prolonged overstimulation causes palpitations and eventually weakens the muscles, including those of the heart.

Can you get better after getting diagnosed with heart failure?

In spite of maintaining a risk-free life, many find themselves at the unsolicited doorstep of heart failure.

They could inherit it from their family or be predisposed or at risk due to another disease.

But after being diagnosed, patients often seek out methods to get better to increase the quality of life.

Most clinicians suggest doing cardio exercises for half an hour every day, along with dietary changes.

Behavioral changes like quitting smoking and drinking are advisable.

In some cases, medications are prescribed.

What are the medications used to treat heart diseases?

Commonly prescribed medications are:

Does meat consumption contribute to heart disease?

The influence of diet on the onset of heart diseases is a much-studied topic.

Recent findings claim that red meat significantly predisposes an individual to succumb to heart diseases.

Scientists have observed that a particular by-product of red meat digestion increases the deposition of cholesterol on the inner walls of blood vessels.

They have also noticed an association with platelets, thus accelerating blood-clot-related complications.

Apart from red meat, doctors often ask patients to avoid foods rich in sodium, processed meats, and beverages with added sugars.

Studies conducted in America have conclusive numbers that highlight the dangers caused by such foods on the cardiac system.

So, what can you eat?

The heart-healthy foods

A few alternatives in your kitchen could go a long way in keeping your hearts safe!

The staple food, rice, often becomes the culprit. Using barley instead of rice adds more fiber to the plate.

For those using whole wheat bread, Edamame (Japanese soybean) is a welcome change that packages almost four times the same fiber content.

Instead of drinking beverages out of the can, including healthy volumes of red wine in your diet helps the heart.

Replacing salty foods with fresh herbs is found to have impressive effects while adding some flavor to your plate.

Apart from these, snacking on walnuts and almonds is advisable.

Magnesium for heart health

Magnesium has been found to restore blood pressure levels by acting on the ion channels lining blood vessels.

Is heart disease curable?

With increasing advances in scientific research, the onus on finding a cure for heart diseases is greater than ever.

However, the fact that it is not curable has not been challenged.

This is because the exact progression of a ‘heart being attacked’ causes irreversible damage to the heart muscles.

As you are reading this article, science is finding ways to revert this but has solutions to delay the onset of heart diseases by a much bigger margin than what was possible a few years ago.

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Can heart diseases be prevented?

Lifestyle and wellness experts stress on how heart diseases can be prevented.

This can be understood as a progressive recommendation.

For youngsters, they suggest charting out heart-healthy diets and starting an exercise routine.

Smoking and drinking are to be avoided.

For elders with a stressful work environment, the biggest task is to control stress and increase their quality of life.

With age, metabolism will slow down, which necessitates regulating diets.

Apart from this, general awareness about the onset of heart diseases and heart attacks would add to the conscious living of individuals.

Do blood tests detect heart problems?

Testing your blood is a great way to understand what’s going on inside your blood vessels.

The most conclusive would be a cholesterol test, which gives you a lipid profile that outlines which types of cholesterols are floating in your blood.

This helps to understand how they might deposit on the blood vessels. CRP tests are equally helpful in estimating the extent of inflammation, which is a marker of cholesterol deposition.

These two tests in combination are informative about atherosclerosis.

Apart from these, lipoproteins, ceramides in plasma and peptide levels add value to understanding the extent of risk to heart disease.

What are habits that can make your heart stronger?

Exercising for 30 minutes a day is found to be effective in making a heart healthier.

The most appropriate type of exercise for the heart is a cardio routine.

Lifting weights add strength to the muscles and increase the overall fitness of an individual.

Staying hydrated helps in thinning of the blood.

Additionally, vitamin E and aspirin supplements are found to prevent atherosclerosis.

Replacing coffee with tea and avoiding cigarettes are seen to have profound effects.

What is a congenital heart defect?

A person born with a heart with weak/faulty valves, walls or blood vessels, is said to have a congenital heart defect.

Often these go unnoticed in infants.

However, they resurface during adulthood, causing irreversible damage.

Treatment options are similar to conventional heart disease methods.

What is the link between congenital heart defect and Down Syndrome?

There are studies underway to find the reasoning behind individuals with Down syndrome falling prey to heart diseases at a shockingly young age.

Because Down syndrome is a genetic abnormality, it is suspected that the affected gene also results in congenital heart defects.

What is a widowmaker heart attack?

The front wall of the heart receives oxygenated blood from an important blood vessel called the Left Anterior Descending (LAD) artery.

When this artery gets blocked, a significant part of the heart is deprived of much-needed blood.

This causes the rapid onset of a heart attack.

Among other instances, this is known to be highly critical as it can change from a meager block to full blockage within a very short span of time.

Inheritance of heart diseases

The most common reason for the high mortality rate around heart attacks is that it can be passed on through a set of faulty genes to many generations. Among these, the following are inheritable:

Genetic tests for heart diseases

Since it is a predominantly inheritable disease, patients at risk of heart diseases should definitely sign up for a genetic test with their immediate family members.

Genetic tests can resolve doubts about a person’s suspected inheritance of disease.

By mapping the family tree, the incidence of heart diseases can be tracked.

A genetic counselor can also help an individual understand how predisposed they are to a particular condition, based on the above.

Who should seek genetic testing for heart diseases?

Ideally, genetic testing can be done for any person interested to understand the occurrence of the disease and their risk.

Additionally, it can prove helpful for patients who are diagnosed with a disease of the heart, to better understand how they inherited it.

A thoughtful thing to do would be to include his/her immediate family members in the test to make diagnosis better.

Family members who have lost a blood relative can ideally walk in to get a test done for clarity of inheritance.

22q deletion syndrome and heart disease

Chromosome deletions have been studied to have multiple effects and one such is the 22q deletion syndrome.

Previously, it was found to cause facial abnormalities, autoimmune disorders, and mental illnesses like schizophrenia and BPD.

In recent times, cardiac diseases have also been observed. Additionally, they complicate surgical procedures, which makes treatment highly risky.

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.

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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. https://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 does the COMT gene do?

The COMT gene is an essential gene when it comes to determining the development of our personalities, identities, and dispositions.

This gene codes for the catechol-o-methyltransferase enzyme that inactivates or breakdown catechols, which are a type of neurotransmitters in the brain, like dopamine.

These neurotransmitters are responsible for brain functions like short-term memory, planning, and cognitive abilities.

Where is COMT found?

COMT gene is found on chromosome 22.

There are two types of COMT genes :

Membrane-bound COMT (MB-COMT)

It has more affinity for dopamine and therefore, plays a more significant role in inactivating dopamine in the brain.

The MB-COMT is located in the cell bodies, axons, and dendrites of cortical neurons with its C-terminal end in extra-cellular space.

Soluble COMT

It has a lesser affinity for dopamine and is located in peripheral tissues like liver, blood, etc. and plays a role in detoxification and metabolism of catechol compounds.

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What is COMT gene mutation?

There is one SNP (Single Nucleotide Polymorphism) within the COMT gene that is associated with the consequences of poor health.

When a small piece of chromosome 22 gets deleted as part of the 22q11.2 deletion syndrome, it leads to the loss of 30-40 genes that includes the COMT gene.

Due to this deletion, people with this disorder have only one copy of the gene instead of two.

Loss of one copy of the COMT gene results in abnormal regulation of the COMT enzyme in the brain and increases the risk of developing behavioral problems and mental illnesses.

What are COMT and MAO enzymes?

COMT and MAO or Monoamine oxidase A (MAO) are two primary enzymes that are responsible for breaking down catecholamines in the brain.

Catecholamines like norepinephrine, epinephrine, and dopamine lower the threshold for an aggressive response to external stimuli.

Where are MAO and COMT found?

MAO is located on the outer membrane of the mitochondria, i.e. in the nerve terminals and glia in the brain and peripheral tissues, it is found primarily in the liver and the kidney.

MAO is of two types and two separate genes code for the two forms: MAO-A and MAO-B.

MAO-A is located in the dopaminergic and noradrenergic neurons, and MAO-B is present in serotonergic neurons and glia.

As mentioned above, COMT is also of two types, where one is membrane-bound, and the other is soluble.

What is the function of the MAO enzyme?

MAO enzyme is responsible for deactivating primary, secondary and tertiary amines that are found in the brain, liver, and kidney.

They play an important role in metabolizing the biogenic amines and oxidizing xenobiotics like aniline.

How do MAO inhibitors work?

MAO is responsible for deactivating amines like dopamine, which is a chemical messenger in the brain.

Low levels of dopamines are associated with Parkinson’s disease.

In such cases, treatment with a dopamine drug is not useful as it cannot cross the brain barrier.

So, MAO inhibitors are used that prevent the breakdown of dopamine and make it available for use in the brain.

What are MAO-B inhibitors?

MAO-B inhibitors are a type of inhibitors that are used to treat symptoms of Parkinson’s disease.

These drugs are prescribed for patients to block the action of the MOA enzyme and prevent the breakdown of dopamine.

What is COMT v158m?

COMT v158m is the most studied SNP of the gene because it plays a vital role in intelligence, personality and the risk of developing a disease.

Presence of the ‘A’ allele is said to decrease the activity of COMT by 3-4 times and affects cognitive and executive functions.

So, if you have AA, then you will have the highest amount of dopamine and GG would mean the lowest amount of it.

Too little or too much dopamine impacts cognitive performance.

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What is the VDRTaq gene?

VDR or Vitamin D Receptor is the nuclear hormone receptor for vitamin D3. Low levels of vitamin D are seen in many acute and chronic illnesses and is also related to neurological and immunological conditions.

Also, it is important to note that vitamin D stimulates enzymes that create dopamine.

TaqMan genotyping assays were used to identify VDR polymorphisms like Taq-1, Bsm-1, Fok-I, and Apa-I.

The VDR Taq and Bsm gene are always inverse to each other.

What is VDR Mutation?

VDR mutations occur in the vitamin D3 receptors and COMT gene have an inverse effect on the regulation of the dopamine levels.

When a person has a VDR mutation, it means that the person is less sensitive to methyl group supplement levels.

Warrior Vs. Worrier Genes

Having AA alleles on the COMT v158m gene, SNP is said to make one prone to stress, and they tend to be ‘worriers.’

In people with AA alleles, the level of COMT is less, and dopamine is high which makes them poor dealers of stress.

However, in the case of GG alleles, the individuals perform better under stress and show more aggression and therefore, are termed as ‘warriors.’

What is the warrior gene?

The 'warrior' gene is located on the short arm (p arm) of the X chromosome and codes for the enzyme Monoamine Oxidase A (MAOA).

The variants of the MAOA gene, collectively called MAOA-L, are responsible for the aggressive behavior seen in many individuals with mental disorders.

A recent study in Finnish criminals brought about another gene that has initially been linked with ADHD, autism, schizophrenia and bipolar disorder called CDH13.

Even this gene today is considered to be a ‘warrior’ gene.

Can a woman have the ‘warrior’ gene?

Everyone has the ‘warrior’ gene.

Its effects are based on the mutations that the gene undergoes due to a variety of predisposing factors.

However, a recent study at the University of Florida has linked the MAO-A or the ‘warrior gene’ in men to be the ‘happiness gene’ in women.

The reason for the difference in expression of the gene in men and women was proposed to be testosterone, which is much higher in men than in women.

Does norepinephrine increase metabolism?

Epinephrine and norepinephrine are catecholamines that act as hormones and neurotransmitters in the brain.

Their primary function is to prepare the body and the brain for action.

They increase the blood flow and activity of the organs needed for impending actions such as increasing the heart rate, promoting alertness, and vigilance, increasing the blood pressure, increasing blood flow to the skeletal muscles, and increasing the utilization of glucose stored in the body.

However, at the same time, epinephrine and norepinephrine reduce the blood flow to certain other parts of the body such as the gastrointestinal system and excretory system as they are not directly involved in the fight or flight response.

So, epinephrine and norepinephrine reduce gastric motility, digestion, and metabolism and inhibit voiding of the bladder.

What is the function of COMT inhibitors?

COMT gene is responsible for the breakdown and metabolism of neurotransmitters like norepinephrine, serotonin, and dopamine in the brain.

When there is less production or excessive metabolism of dopamine, it contributes to the motor symptoms of Parkinson's disease.

Dopamine drugs cannot cross the brain barrier and therefore, are unable to improve the symptoms of the patient.

So, in such cases, COMT inhibitors that prevent the production of COMT enzyme are prescribed. 

This increases the availability of dopamine and reduces motor symptoms of conditions like Parkinson’s disease.

What enzyme breaks down dopamine?

Dopamine is broken down into metabolites by a variety of enzymes that include:

Dopamine can be broken down by different pathways, but all of them lead to the same end product homovanillic acid that has no known biologic activity.

Are the COMT and MTHFR genes interlinked?

Yes, they are and let us see how:

The MTHFR gene codes for the MTHFR enzyme that converts 5,10-methylenetetrahydrofolate (MeTHF) to 5-methyltetrahydrofolate (MTHF).

MTHFR is a part of the one-carbon pathway that cycles dietary folate into its various forms. It gets converted back to THF after it loses one methyl group when methionine synthase converts homocysteine into methionine.

However, a mutation in this MTHFR gene stops the activity of methionine synthesis, leading to the accumulation of homocysteine (an excess of which is terrible for the body).

This is where the COMT gene comes into the picture. Limited methionine means an insufficiency in the activity of the COMT gene.

This is how COMT and MTHFR genes are functionally linked.

Is COMT associated with the genetic susceptibility of schizophrenia?

Currently, there are no conclusive results about the association of the COMT gene with schizophrenia.

However, extensive studies are being carried out to explore the linkage between the COMT  gene and other mental disorder. 

Nutrition facts: Magnesium is a cofactor for COMT and is required for its efficiency. Vitamin B6 or pyridoxine acts as a cofactor for enzymes associated with methionine metabolism.

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