Raj K. Syal, M.D., F.A.C.O.G.    |    Jenna A. Everson, M.D., F.A.C.O.G.    |    Holly Westmoreland, M.D., F.A.C.O.G.   
    • 17 AUG 15
    Methylation and the MTHFR Mutation

    Methylation and the MTHFR Mutation

    Up until recently, MTHFR, short for the methylenetetrahydrofolate reductase enzyme gene, was nearly unheard of. However, due to its effects on health, especially female fertility, more and more people are finding out about the MTHFR gene mutation. The MTHFR enzyme is necessary for the breakdown of folate in the body. It adds a methyl group of folic acid in order to make it usable by the body. The MTHFR gene is vital in helping the body properly use vitamin B9. It is also needed to convert homocysteine into methionine in order for the body to have a proper metabolism, and for muscle growth.

    Surprisingly, as many as 50 percent of Americans have one form or another of an MTHFR gene mutation; as a result, it can negatively impact the ability of the genes to methylate as they should. This gene defect can cause many different problems throughout the body, including nutrient absorption and gene expression.

    Folate methylation in the body is vital for healthy levels of homocysteine and other various hormones. A specific byproduct of methylation is needed to break down the amino acid of homocysteine into the essential amino acid of methionine. Methionine is required for the body to make certain proteins, be able to use antioxidants, and to help the liver process fats. Once in the liver, methionine turns into s-adenosylmethionine; and is needed to reduce inflammation, create neurotransmitters, and repair certain cells.

    An MTHFR mutation that causes methylation problems can ultimately cause a build-up of heavy metals and synthetic vitamins within the body. This can impact mental health, cellular health, cause autoimmune diseases, cardiac problems, cancer, depression, addictions, fibromyalgia, autism, pulmonary embolisms, and even pregnancy losses and fertility issues. In addition, people with an MTHFR gene mutation can have fatigue, brain fog, anxiety, sleep problems, and an inability to process alcohol or other toxins properly.