MTHFR

The MTHFR (methylenetetrahydrofolate reductase) gene produces an enzyme involved in the processing of folate and regulation of homocysteine in the body. Folate is a critical nutrient involved in methylation, DNA synthesis, and amino acid metabolism. Impaired folate metabolism due to MTHFR enzyme inactivity or a low folate level results in elevated plasma homocysteine. Homocysteine is an amino acid synthesized by the body through demethylation of methionine. In the presence of adequate B-vitamins, homocysteine is either irreversibly degraded to cysteine or it is remethylated back to methionine, an essential amino acid. An elevated homocysteine level is known to be an independent risk factor for ischemic stroke, thrombotic and cardiovascular diseases. Folate, vitamin B6 and vitamin B12 are all necessary molecules for the proper conversion of homocysteine into methionine. A deficiency in any one of these molecules can cause homocysteine levels to rise.