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

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 hyper...

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Published in:Experimental & molecular medicine 2001-06, Vol.33 (2), p.106-109
Main Authors: Song, Kyung Soon, Song, Jae Woo, Choi, Jong Rak, Kim, Hyun Kyung, Shin, Jung Sik, Kim, Jeong Ho
Format: Article
Language:English
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Summary: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.
ISSN:2092-6413
1226-3613
2092-6413
DOI:10.1038/emm.2001.19