What is the Origin of MTHFR C677T Polymorphism?

This genetic term is derived from molecular biology and human genetics, representing a key finding in the study of genetic determinants of metabolic health. The MTHFR enzyme is central to the folate and homocysteine metabolic pathways. Clinical awareness of this polymorphism has grown significantly due to its implications for cardiovascular health, neurological function, and detoxification capacity.

What is the Mechanism of MTHFR C677T Polymorphism?

The MTHFR enzyme is required to catalyze the final, rate-limiting step in the conversion of inactive folate to 5-MTHF, the primary methyl donor. Individuals with the C677T polymorphism, particularly those homozygous for the T allele, exhibit decreased enzyme efficiency, which can lead to reduced 5-MTHF availability and elevated plasma homocysteine levels. This mechanism directly affects methylation capacity, a process vital for hormone metabolism and neurotransmitter synthesis.

MTHFR C677T Polymorphism ∞ Area

MTHFR C677T Polymorphism

Meaning

The MTHFR C677T Polymorphism is a common genetic variation, or single nucleotide polymorphism (SNP), in the gene encoding the Methylenetetrahydrofolate Reductase (MTHFR) enzyme. This specific alteration involves a cytosine (C) to thymine (T) substitution at position 677, which can reduce the enzyme’s catalytic activity. The resulting reduction in MTHFR function impairs the body’s ability to convert folic acid into its active form, 5-MTHF. This genetic factor can significantly influence an individual’s methylation capacity.