title: The methylenetetrahydrofolate reductase (MTHFR) 677C-->T mutation and cardiovascular risk--A case of ischemic stroke and acute myocardial infarction.
abstract: The authors report the case of a 39-year-old male patient who had an ischemic stroke (complete infarction of right anterior cerebral circulation) and an acute myocardial infarction during the same year. Molecular study revealed he was homozygous for the 677C-->T mutation in the gene coding for methylenetetrahydrofolate reductase, a key enzyme of folate metabolism; deficiency of this enzyme is associated with increased cardiovascular risk and neurological lesions. Some considerations are put forward about hyperhomocysteinemia and the MTHFR 677C-->T mutation as cardiovascular risk factors.
authors.affiliation: Serviço de Medicina II, Hospitais da Universidade de Coimbra, Coimbra, Portugal. jmiguelmelo@mail.telepac.pt
authors.forename: Miguel
authors.initials: M
authors.lastname: Melo
authors.forename: Elsa
authors.initials: E
authors.lastname: Gaspar
authors.forename: Sofia
authors.initials: S
authors.lastname: Madeira
authors.forename: Pereira
authors.initials: P
authors.lastname: de Moura
authors.forename: Borges
authors.initials: B
authors.lastname: Alexandrino
authors.forename: J J Alves
authors.initials: JJ
authors.lastname: de Moura
mesh_terms: D000328:Adult; D020520:Brain Infarction / Q000150:complications / Q000235:genetics*; D006801:Humans; D020138:Hyperhomocysteinemia / Q000150:complications; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation; D009203:Myocardial Infarction / Q000150:complications / Q000235:genetics*; D012307:Risk Factors
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)