The MTHFR gene is one of 20,000 genes in our body that run the entire show of life. While its job is to produce an enzyme called methylenetetrahydrofolate reductase that helps you utilize vitamin B9 (folic acid) efficiently, its mutations can put you at an increased risk of such serious complications as colon cancer, stroke, recurrent miscarriage, Alzheimer’s disease, depression and heart disease.

What is the MTHFR Gene?
Under normal circumstances, the MTHFR gene produces an enzyme that converts vitamin B9, or folic acid into its active form, methyl folate. This process is vital since methyl folate takes part in almost all major biochemical reactions that happen inside your body. Methyl folate is at the centre of a bodily process called “methylation.” In this process, a methyl (-CH3) group is added to a compound. Methylation is important in

  • repair and regeneration of cells, tissues and DNA;
  • regulating gene expression;
  • protein function;
  • production of neurotransmitters that help transmit electrical signals throughout the body;
  • helping liver process fats and

many more such important functions.

Why Is An MTHFR Mutation Problematic?
Individuals with an MTHFR mutation have a defective MTHFR enzyme that produces lesser amounts of methyl folate (up to 30% to 70% lesser). Lesser amounts of methyl folate can have a huge impact on a person’s health due to the inherent importance of this vital metabolite in the methylation process.
Another major function of the MTHFR enzyme is to keep homocysteine levels in check. Homocysteine is an intermediate product in the normal biosynthesis of methionine and cysteine, two important amino acids. During normal methylation (considering that the MTHFR gene is normal), homocysteine is methylated to methionine. If the MTHFR gene is mutated, all the homocysteine is not completely methylated and it accumulates in the blood to abnormally high levels. This is called hyperhomocysteinemia.

The Link Between Hyperhomocysteinemia and Cardiac Risk
Homocysteine increases the risks of cardiovascular diseases by adversely affecting vascular endothelium (walls of the major blood vessels) and smooth muscle cells. Arterial structure and function is altered leading to oxidative damage, endothelial dysfunction, increase in synthesis and accumulation of collagen and deterioration of the elasticity of arterial walls. High levels of blood homocysteine also promote formation of thrombus, a blood clot that forms within the blood vessel and impedes normal flow of blood). All of these changes promote atherosclerosis (blocking of arteries supplying blood to heart), ultimately leading to congestive heart failure and heart attack (myocardial infarction).

The Nutrigenomics Solution
While an MTHFR mutation may seem potentially fatal, the problem can be easily resolved through a nutrigenomics approach. This approach begins with a simple genetic test. This test can be done using saliva sample and will identify if there are any mutations to the MTHFR gene. If a mutation is observed, assessment of its impact on the methylation process is done. All this information helps the Nutrigenomics Counselor to determine the right diet and supplementation so as to support normal methylation processes in the body.
A nutrigenomic approach can help identify many such mutations that may put an individual at risk of many health conditions and diseases. Timely diagnosis and designing personalized treatment regimen can help to effectively treat or manage the condition and can help the individual live a healthy and wholesome life.

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