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MTHFR Polymorphism

Meaning

An MTHFR polymorphism refers to a common genetic variation, or single nucleotide polymorphism (SNP), within the gene that codes for the enzyme Methylenetetrahydrofolate Reductase. The two most clinically studied variants, C677T and A1298C, can result in a measurable reduction in the enzyme’s functional capacity, consequently impairing the body’s essential ability to process folate and convert the amino acid homocysteine to methionine. This reduced enzymatic efficiency can compromise vital methylation processes required for DNA repair, hormone detoxification, and neurotransmitter synthesis, thereby impacting overall hormonal and cardiovascular health.