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Vitamins are organic substances needed for the growth and development of the human body. Ascorbic acid or Vitamin C is one such vitamin. 

It was discovered in the 1920s by Albert von Szent Györgyi as the molecule that can cure scurvy. Scurvy, which is caused by severe Vitamin C deficiency, can turn fatal if left untreated.

Vitamin C is now an established drug and is commonly used as a supplement. Vitamin C must be consumed through food or diet. It can be excreted out of the body easily because of its water solubility.

vitamin c deficiency

Some animals like cats and dogs can synthesize this vitamin on their own, whereas some birds, fish, and humans cannot.

Though humans have the gene needed for vitamin C production, it has been inactivated through evolution.

The gene crucial for converting L-Gulonolactone into ascorbic acid, the active form of vitamin C, is heavily mutated. This gene contains instructions for producing an enzyme called gluconolactone oxidase or Gulon. These mutations were accumulated over time as humans evolved. These genes that accumulate mutations and are not functional are termed pseudogenes. 

You must be wondering why a process so crucial is prevented from happening in our bodies. The answer to this lies in understanding the function of this gene. 

There are a few theories to answer this question.

The first one is that hydrogen peroxide is a byproduct of this process. 

Hydrogen peroxide is a reactive oxygen species, ROS for short. A buildup of ROS in the body can lead to disease conditions. By not synthesizing vitamin C, our body prevents the buildup of ROS.

Another theory talks about the function of vitamin C as a regulator.

Vitamin C regulates the transcription factor Hypoxia-Inducible Factor 1α, HIF1α for short. This is responsible for regulating the production of several stress-related genes. 

This shows that there are actually some advantages to the absence of vitamin C synthesis in the body. Additionally, human ancestors have had plenty of vitamin C in the fruits and berries they consumed in the rain forests.

Genetics of Vitamin C Deficiency

Your genes can also influence how effectively vitamin C is absorbed and used by the body.  SLC23A1 and SLC23A2 genes are involved in the absorption and distribution of vitamin C. Mutations or changes in these genes also influence the absorption of vitamin C by the body.

Vitamin C Genetic Test

You can find out if you have any genetic variations that affect your vitamin C levels. This can be done through a genetic test.

Most genetic tests provide your DNA information in the form of a text file called the raw DNA data. This data may seem like Greek and Latin to you.

Xcode Life, can help you interpret this data. All you have to do is upload your raw data and order a nutrition report.

Xcode Life then analyzes your raw data in detail to provide you with comprehensive nutrition analysis, including information on your vitamin C levels.

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The Solute Carrier Family 23 Member 1 (SLC23A1) gene is associated with the synthesis of Solute Carrier Family 23 Member 1(SLC23A1) protein, a transporter which is found to be associated with the absorption of vitamin C and distribution to the rest of the body.

Most mammals synthesize ascorbic acid (vitamin C) on their own, however, humans cannot produce this vitamin and depend on dietary sources. One of the well-known historical anecdotes associated with this vitamin requirement is that of the exploration by Ferdinand Magellan. This Spanish explorer was the first to travel around the world with his crew, showing that the world was indeed round and not flat as was commonly believed. Most of his crew are believed to have died during the expedition due to scurvy, a condition caused due to the lack of this nutrient. However, cats that were taken as pets during the expedition survived as they could produce this vitamin. Some people are shown to be associated with an increased requirement for vitamin C, based on the variant of the SLC23A1 gene that they carry.

This vitamin is necessary for the biosynthesis of collagen, catecholamine and carnitine, non-heme iron absorption and in the synthesis of anti-oxidants. Its deficiency can lead to scurvy, leading to fatigue and weakness, reduction in bone and muscle strength and poor immunity.

Does your 23andme, Ancestry DNA, FTDNA raw data have SLC23A1 gene variant information?

CHIP VersionSLC23A1 SNPs
23andMe (Use your 23andme raw data to know your SLC23A1 Variant)
v1 23andmePresent
v2 23andmePresent
v3 23andmePresent
v4 23andmePresent
V5 23andme (current chip)Present
AncestryDNA  (Use your ancestry DNA raw data to know your SLC23A1 Variant)
v1 ancestry DNAPresent
V2 ancestry DNA (current chip)Present
Family Tree DNA  (Use your FTDNA raw data to know your SLC23A1 Variant)
OmniExpress microarray chipPresent

Association with active vitamin C levels:

In a study conducted on 15,087 individuals, people with the A variant of the gene were shown to be associated with a reduction in the amount of circulating levels of l-ascorbic acid. In a similar study conducted on 97,203 individuals, people with the G variant of the gene were shown to be associated with 11% higher vitamin C than people with the A variant.

Genotype rs33972313PhenotypeRecommendations
GG[Advantage] More likely to have higher plasma vitamin C levelsEnsure sufficient intake of vitamin C from the diet
AGModerate plasma vitamin C levelsInclude vitamin C rich foods in the diet RDI requirement: 75mg/day for women and 90mg/day for men. Vitamin C rich foods include oranges, broccoli, kale, red peppers, brussels sprouts, grapefruit and strawberries
AA[Limitation] More likely to have lower plasma vitamin C levelsInclude vitamin C rich foods in the diet RDI requirement: 75mg/day for women and 90mg/day for men. Vitamin C rich foods include oranges, broccoli, kale, red peppers, brussels sprouts, grapefruit and strawberries

References:

  1. https://en.wikipedia.org/wiki/SLC23A1
  2. https://www.ncbi.nlm.nih.gov/pubmed/25948669
  3. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4357493/
  4. https://www.ncbi.nlm.nih.gov/pubmed/20519558

“Nutrigenetics, fitness genetics, health genetics are all nascent but rapidly growing areas within human genetics. The information provided herein is based on preliminary scientific studies and it is to be read and understood in that context.”

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