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MTHFR C677T

Meaning

MTHFR C677T refers to a common single nucleotide polymorphism (SNP) in the gene encoding the enzyme Methylenetetrahydrofolate Reductase (MTHFR), where a cytosine (C) base is replaced by a thymine (T) base at position 677. This genetic variation can lead to reduced enzymatic activity, potentially impairing the body’s ability to convert folic acid into its active form, 5-methyltetrahydrofolate (5-MTHF). Clinical practice recognizes this polymorphism as a factor that may influence homocysteine levels and affect the methylation cycle, which is important for various metabolic and hormonal processes.