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What the MTHFR? Part 1: What is MTHFR and What does It Do?

Methylenetetrahydrofolate Reductase Gene Mutation–that’s a mouth full! Genetics determine more than the color of your eyes. As we learned in the previous series, genetics can affect your health in a number of ways. The MTHFR gene mutation (a fairly common genetic variant) can be a factor in a myriad of medical conditions. Through genetic testing, more than 40 variants of the gene that encodes the MTHFR enzyme have been identified.

What is MTHFR and what does it do?

MTHFR is an enzyme encoded by the MTHFR gene. The enzyme adds a methyl group to folic acid, making it usable by the body. A mutation of the MTHFR gene may be linked to serious health conditions, such as birth defects, neurological disorders, and some cancers.

It is estimated that 50 percent of the population has some type of MTHFR mutation. Some of MTHFR mutations are more serious than others.

What is methylation and why does it matter?

Methylation is a basic biochemical process in which the methyl group is transferred to a molecule—and it occurs billions of times per second in the cells. Nearly every reaction and function of every body system involves the process of methylation.

Here are some examples of systems and functions affected by the methlation process:

  • Gene regulation — Turning genes on and off. Think of this as taping a light switch on or off. Doing so keeps the switch in place, but if the tape wears off, then the switch can move, meaning the gene can then be turned on. For example: cancer genes.

  • Detoxification — Ridding the body of toxins like chemicals and heavy metals.

  • Nerve function — Nerves in the body send signals to the brain for movement and sensations, such as pain.

  • Immune system — Development of immune modulating cells like T cells and NK cells

  • Energy production — Metabolism (burning fat for energy), and cellular energy production

  • Hormone regulation — Processing and detoxifying hormones like estrogen

  • Cognitive and emotional health — Building the neurotransmitters that affect mood

  • DNA and RNA synthesis — A chemical reaction between molecules in which bonds are formed.

For proper and efficient methylation, there must be methyl groups available to transfer, and is dependent on B vitamin status (B9, B12, B6 and B2). As described, the MTHFR enzyme is the controlling enzyme in the production of methyl groups. If a MTHFR gene mutation exists, there will be decreased production of methyl groups resulting in impaired methylation.

In our next article, we’ll look at symptoms and conditions associated with an MTHFR mutation.

Betty Murray, CN, IFMCP, CHC is a Certified Nutritionist & Certified Functional Medicine Practitioner with the Institute for Functional Medicine, founder of the Dallas-based functional medicine clinic Living Well Dallas and Executive Director of the the Functional Medicine Association of North Texas. A master of the biochemistry of the body, Betty teaches her clients how to utilize nutrition for autoimmune diseases, digestive disorders, MTHFR and weight loss. You can find her book “Cleanse: Detox Your Body, Mind & Spirit” on Amazon here.

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