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What is MTHFR and why does it matter?

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If you read the latest health news, you may have seen the acronym MTHFR popping up a lot recently. MTHFR stands for methylenetetrahydrofolate reductase, an enzyme that plays a role in processing the nutrient folic acid/folate into a form the body can use. With the increased popularity of genetic testing, many people are showing a mutation in the MTHFR gene. This genetic defect impacts the body's methylation pathways, which affects detoxification and other important processes in the body and thus can give rise to health disorders.

Methylation is a process of adding a methyl group to a molecule.  Methylation's roles  include:

  • Turns on and off genes
  • Processes chemicals and toxins
  • Builds brain chemicals called neurotransmitters
  • Processes hormones
  • Builds immune cells
  • Synthesizes DNA and RNA
  • Produces energy
  • Produces protective coating on nerves

When the MTHFR genes work properly, you can more efficiently make proteins, use antioxidants, metabolize hormones, enjoy more stable brain chemistry, better eliminate toxins and heavy metals, and manage inflammation.

In the case of MTHFR genetic defects, the MTHFR enzyme does not work optimally. As a result, certain folate vitamins are not properly broken down. This can lead to high homocysteine, which raises inflammation in the body and increases the risk of heart disease and dementia. Synthesis of glutathione, the body's main antioxidant, becomes compromised, as does the synthesis of important brain neurotransmitters, so that depression and other brain-based disorders may arise. Because the MTHFR gene is involved in such fundamental processes in the body, an MTHFR mutation has been associated with numerous health conditions, including an increased risk of heart attack, stroke, venous thrombosis, cancer, birth defects, inflammatory bowel disease, and mental and mood disorders.

One way you can test for MTHFR gene mutations is through genetic testing companies such as  Spectracell  or  23andme.com  and an interpretation at  geneticgenie.org. There are more than 50 MTHFR genetic mutations, however the two deemed problematic are C677T and A1298C (written as just 677 and 1298), which exist in a variety of combinations. It’s important to understand that if you show a genetic MTHFR mutation, it doesn't necessarily mean those genes have been expressed and are causing symptoms.

Dealing with a MTHFR enzyme defect that is causing symptoms can be complicated. But since this defect can result in compromised methylation, a good place to start is by supporting methylation pathways with methylfolate and methylcobalamin (methyl B12), avoiding supplements with folic acid, supporting glutathione activity, and taking care not to overtax your detoxification system by living as toxin-free as possible.

Meet the Author

Dr. Boyle D.A.C.M., LAc., DiplOM.
Dr. Boyle D.A.C.M., LAc., DiplOM.

Dr. Boyle D.A.C.M., LAc., DiplOM. is the founder of the Holistic Wellness Center of the Carolinas where he is the Director of Functional Medicine. He holds a Diplomate in Oriental Medicine and is acupuncture physician and primary care physician in the state of Florida. His post-graduate focus has been in the fields of functional neurology, functional immunology, and functional endocrinology.

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