5,10-Methylenetetrahydrofolate reductase (MTHFR) is an enzyme that catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a key step in the homocysteine metabolism pathway.

Mutations in the MTHFR gene can lead to elevated homocysteine levels, increasing the risk for venous and arterial thrombosis. The most common mutation is C677T, resulting in an alanine-to-valine substitution. The A1298C mutation, a glutamate-to-alanine substitution at nucleotide 1298, also reduces enzymatic activity.

MTHFR polymorphisms are associated with vascular disease, pregnancy complications (including recurrent spontaneous abortion), and fetal developmental abnormalities. Women who are heterozygous for both MTHFR mutations are at increased risk for pregnancy complications.

• Clotted samples
• Specimens not collected in EDTA tubes
• Frozen specimens

Polymerase chain reaction (PCR) with reverse hybridization.

• Normal: A/A
• Heterozygous Mutated: A/C
• Homozygous Mutated: C/C

• Skibola C, Smith M, Kane E et al. PNAS 1999;96:12810-12815.
• Friedman G, Goldsmith N et al. J Nutr 1999;129:1656-1661.

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