title: 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.
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.
authors.affiliation: Department of Clinical Pathology, Yonsei University College of Medicine, Seoul, Korea. kssong@yumc.yonsei.ac.kr
authors.forename: K S
authors.initials: KS
authors.lastname: Song
authors.forename: J W
authors.initials: JW
authors.lastname: Song
authors.forename: J R
authors.initials: JR
authors.lastname: Choi
authors.forename: H K
authors.initials: HK
authors.lastname: Kim
authors.forename: J S
authors.initials: JS
authors.lastname: Shin
authors.forename: J H
authors.initials: JH
authors.lastname: Kim
mesh_terms: D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / Q000235:genetics*; D000328:Adult; D004247:DNA / Q000378:metabolism; D004262:DNA Restriction Enzymes / Q000378:metabolism; D005192:Family Health; D005260:Female; D014644:Genetic Variation; D005838:Genotype; D006710:Homocysteine / Q000097:blood / Q000235:genetics; D006720:Homozygote; D006801:Humans; D020138:Hyperhomocysteinemia / Q000235:genetics*; D008297:Male; D011110:Polymorphism, Genetic; D020521:Stroke / Q000235:genetics*; D013763:Tetrahydrofolates / Q000235:genetics*
chemical_list: D013763:Tetrahydrofolates; D006710:Homocysteine; C013123:5,10-methylenetetrahydrofolic acid; D004247:DNA; D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; D004262:DNA Restriction Enzymes