The 5,10-methylenetetrahydrofolate reductase (MTHFR) gene codes for the MTHFR enzyme, which catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methylenetetrahydrofolate, i.e., it “reduces” folate. 5-methyltetrahydrofolate is the substrate for the remethylation of homocysteine to methionine, thus assisting in the metabolism of homocysteine and aiding in the recycling of methionine. Genetic polymorphisms in the MTFHR gene lead to reductions in the efficiency of methylation reactions, resulting in the accumulation of metabolic intermediates. Methylation defects, like those caused by mutations in MTHFR, hinder optimal function of essential metabolic pathways, including DNA synthesis and repair, neurotransmitter synthesis, gene regulation, protein function, antioxidant synthesis, heavy metal detoxification, immune activity, homocysteine regulation, and hormone activity [1]. Thus, the MTHFR mutation can lead to a wide range of metabolic dysregulation, for example, the accumulation of homocysteine, reduced methionine, and dysregulation of other pathways requiring methylation intermediates [2]. Because methylation reactions are ubiquitous and function directly in post-transcriptional epigenetic regulation and as an intermediate in numerous metabolic reactions, it is no surprise that MTHFR polymorphisms have been associated with a wide variety of symptoms and associated diseases, including depression, hypertension and occlusive vascular disease, dementia and Alzheimer’s disease

Citation: Oberg E, Givant C, Fisk B, Parikh C, Bradley R (2015) Epigenetics in Clinical Practice: Characterizing Patient and Provider Experiences with MTHFR Polymorphisms and Methylfolate. J Clin Med Genom 3:124.

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