Exp Mol Med.  2001 Jun;33(2):106-109.

Homozygous VN (677C to T) and d/D (2756G to A) variants in the methylenetetrahydrofolate and methionine synthase genes in a case of hyperhomocysteinemia with stroke at young age

• Song KS
• Song JW
• Choi JR
• Kim HK
• Shin JS
• Kim JH

Abstract

Hyperhomocysteinemia is known to be associated with an increased risk of myocardial infarction, stroke, peripheral arterial disease, and venous thrombosis. Gene polymorphisms in methylenetetrahydrofolate reductase (MTHFR) and methionine synthase (MS) may account for reduced enzyme activity and hyperhomocysteinemia. A recent study has documented evidence of polygenic regulation of plasma homocyteine. We report here on a case of occlusive stroke at young age and hyperhomocysteinemia with homozygous VN (677C to T) variant in the MTHFR gene as well as homozygous D/D (2756G to A) variant in the MS gene.

Keyword

methylenetetrahydrofolate reductase; methionine synthase; homocysteine; stroke

MeSH Terms

5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase/*genetics
Adult
Cerebrovascular Accident/*genetics
DNA/metabolism
DNA Restriction Enzymes/metabolism
Family Health
Female
Genotype
Homocysteine/blood/genetics
*Homozygote
Human
Hyperhomocysteinemia/*genetics
Male
Polymorphism (Genetics)
Tetrahydrofolates/*genetics
Variation (Genetics)