What is the Origin of MTHFR Gene Variant Data?

The term originates from the identification of the MTHFR gene and its common single nucleotide polymorphisms (SNPs) in the field of human molecular genetics in the late 20th century. The clinical relevance became apparent through research linking impaired MTHFR function to elevated homocysteine, a risk factor for cardiovascular and neurological conditions. "Data" refers to the specific genotype results obtained from genetic testing.

What is the Mechanism of MTHFR Gene Variant Data?

The MTHFR enzyme catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate (5-MTHF), the active form of folate necessary for the methylation cycle. The gene variant data reveals the potential efficiency of this conversion step. Clinical interpretation uses this mechanism to recommend the bioavailable form of folate to bypass the compromised enzyme function and ensure proper cellular methylation.

MTHFR Gene Variant Data ∞ Area

MTHFR Gene Variant Data

Meaning

Genetic sequencing information that identifies the presence of polymorphisms, specifically the C677T and A1298C variants, in the Methylenetetrahydrofolate Reductase (MTHFR) gene. This data is clinically significant because these variants can reduce the enzyme’s activity, potentially impairing the body’s ability to metabolize folate and homocysteine, which impacts methylation processes. This information guides personalized nutritional and supplement strategies to mitigate potential functional deficiencies.