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MTHFR Gene

Meaning

The MTHFR gene provides the genetic blueprint for the enzyme methylenetetrahydrofolate reductase, a critical component in the body’s one-carbon metabolism pathway. This enzyme is responsible for converting 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the active, circulating form of folate required for the remethylation of homocysteine to methionine. Clinically significant polymorphisms, particularly the C677T and A1298C variants, can reduce the enzyme’s activity, potentially leading to elevated homocysteine levels and impacting numerous methylation-dependent processes, including neurotransmitter synthesis and DNA repair. Understanding MTHFR status is relevant in contexts like preconception health and cardiovascular risk assessment.