title: Increased risk of stroke in patients with the A12308G polymorphism in mitochondria.
abstract: Factors which increase the risk of stroke in patients with the A3243G (mitochondrial encephalomyopathy, lactic acidosis, and stroke [MELAS]) mutation in human mitochondrial DNA are unclear. Previous work on lung-cancer cells with an A3243G mutation showed that a mutation in the mitochondrial transfer gene for leucine tRNA(Leu(CUN)) was able to ameliorate the A3243G-induced biochemical phenotype. We analysed the tRNA(Leu(CUN)) gene in 48 unrelated A3243G cases. We showed that a polymorphism, A12308G, in tRNA(Leu(CUN)) increases the risk of developing stroke in patients with the A3243G mutation (relative risk=2.17). This may have implications for genetic counselling.
authors.forename: T
authors.initials: T
authors.lastname: Pulkes
authors.forename: M G
authors.initials: MG
authors.lastname: Sweeney
authors.forename: M G
authors.initials: MG
authors.lastname: Hanna
mesh_terms: D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D017241:MELAS Syndrome / Q000150:complications / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation; D011110:Polymorphism, Genetic; D012356:RNA, Transfer, Leu / Q000032:analysis / Q000235:genetics*; D020521:Stroke / Q000150:complications / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu