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.
Exp Mol Med
; 33(2): 106-9, 2001 Jun 30.
Article
em En
| MEDLINE
| ID: mdl-11460881
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.
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Base de dados:
MEDLINE
Assunto principal:
5-Metiltetra-Hidrofolato-Homocisteína S-Metiltransferase
/
Tetra-Hidrofolatos
/
Hiper-Homocisteinemia
/
Acidente Vascular Cerebral
/
Homozigoto
Idioma:
En
Ano de publicação:
2001
Tipo de documento:
Article