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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.
AuthorsT Pulkes, M G Sweeney, M G Hanna
JournalLancet (London, England) (Lancet) Vol. 356 Issue 9247 Pg. 2068-9 (Dec 16 2000) ISSN: 0140-6736 [Print] England
PMID11145497 (Publication Type: Letter, Research Support, Non-U.S. Gov't)
Chemical References
  • DNA, Mitochondrial
  • RNA, Transfer, Leu
Topics
  • DNA Mutational Analysis
  • DNA, Mitochondrial (genetics)
  • Haplotypes
  • Humans
  • MELAS Syndrome (complications, genetics)
  • Phenotype
  • Point Mutation
  • Polymorphism, Genetic
  • RNA, Transfer, Leu (analysis, genetics)
  • Stroke (complications, genetics)

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