Homozygous V/V (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

Kyung Soon Song; Jae Woo Song; Jong Rak Choi; Hyun Kyung Kim; Jung Sik Shin; Jeong Ho Kim

doi:10.1038/emm.2001.19

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Homozygous V/V (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

Authors: Kyung Soon Song ; Jae Woo Song ; Jong Rak Choi ; Hyun Kyung Kim ; Jung Sik Shin ; Jeong Ho Kim

Citation: EXPERIMENTAL AND MOLECULAR MEDICINE, Vol.33(2) : 106-109, 2001

Journal Title: EXPERIMENTAL AND MOLECULAR MEDICINE

ISSN: 1226-3613

Issue Date: 2001

MeSH: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase/genetics* ; Adult ; DNA/metabolism ; DNA Restriction Enzymes/metabolism ; Family Health ; Female ; Genetic Variation ; Genotype ; Homocysteine/blood ; Homocysteine/genetics ; Homozygote* ; Humans ; Hyperhomocysteinemia/genetics* ; Male ; Polymorphism, Genetic ; Stroke/genetics* ; Tetrahydrofolates/genetics*

Keywords: methylenetetrahydrofolate reductase ; methionine synthase ; homocysteine ; stroke

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 V/V (677C to T) variant in the MTHFR gene as well as homozygous D/D (2756G to A) variant in the MS gene.