MTHFR Mutation

1. MTHFR Mutation - MTHFR Genetic Mutation The MTHFR Mutation – Methylenetetrahydrofolate Reductase (MTHFR) is critical in the function of DNA methylation, a complex biochemical process that regulates gene expression (i.e., turning genes on and off). It also governs intracellular detoxification, regulates protein function and RNA production, and supports the immune system. The MTHFR gene metabolizes folate, which is a key nutrient for methylation, specifically the conversion of homocysteine (a potentially toxic amino acid) to methionine. MTHFR provides methylation with its main fuel: folate (5-MethylTetraHydroFolate). Without adequate amounts of folate, methylation function is reduced. Methylation is required for virtually every process in our body, therefore affecting numerous health conditions. In fact, in many studies, researchers have found that the MTHFR mutation is linked to a variety of conditions. Below is a partial list of MTHFR symptoms and conditions in alphabetical order: Why do we need this test? Over 80% of the population has an MTHFR mutation in at least one of the two most important alleles (C677T and A1298C) of the MTHFR gene. *1 MTHFR C677T can also lead to high homocysteine, although this can be difficult to clinically identify because other factors can also influence homocysteine levels. Research has shown that an MTHFR mutation of this allele has a greater impact on health compared to other alleles. MTHFR A1298C has not been found clinically to have an effect on homocysteine levels. This allele has a greater effect in the production of BH4 (tetrahydrobiopterin). BH4 is a cofactor in the production of neurotransmitters such as epinephrine, norepinephrine, serotonin, dopamine and melatonin. A deficiency of BH4 may affect the cardiovascular and neurological systems as well as emotional wellbeing. Compound heterozygous and homozygous C677T are considered severe or “at risk” of reduced methylation. High homocysteine has a high risk factor for numerous diseases. Homozygous C677T and compound heterozygous MTHFR mutations are more likely to correlate with elevated homocysteine levels and a greater risk of heart disease. Those with a heterozygous MTHFR mutation (C677T) may lose roughly 40% of their enzyme activity, and those with a homozygous MTHFR mutation may lose up to 70%. Today, science has proven that our body has a mechanism capable of silencing “bad genes” or regulating gene expression. This process is called methylation. For more information visit our website https://www.mthfrdoctors.com