What is the Origin of MTHFR Gene Methylation?

This concept is a core element of nutrigenetics and clinical biochemistry, originating from the discovery of the MTHFR gene and its common variants, C677T and A1298C. The term became clinically significant with the realization that reduced MTHFR function leads to impaired homocysteine clearance and decreased production of S-adenosylmethionine (SAMe), the universal methyl donor. This established a direct link between genetic variants and a fundamental metabolic process.

What is the Mechanism of MTHFR Gene Methylation?

The MTHFR enzyme catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate (5-MTHF). This 5-MTHF is the necessary cofactor for the enzyme Methionine Synthase, which remethylates homocysteine to methionine, a precursor to SAMe. When MTHFR activity is compromised by a genetic variant, the resulting reduction in SAMe impairs critical methylation reactions, including the detoxification of estrogen metabolites in the liver, thereby affecting hormonal homeostasis.

MTHFR Gene Methylation ∞ Area

MTHFR Gene Methylation

Meaning

MTHFR Gene Methylation refers to the crucial biochemical process catalyzed by the enzyme encoded by the MTHFR (Methylenetetrahydrofolate Reductase) gene, which produces the active form of folate necessary for the methylation cycle. Methylation is a fundamental epigenetic process involving the transfer of a methyl group to DNA, proteins, or other molecules, essential for gene expression, detoxification, and hormone metabolism. Polymorphisms in the MTHFR gene can impair this enzyme’s function, thereby reducing the body’s overall methylation capacity.