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.
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Authors | T Pulkes, M G Sweeney, M G Hanna |
Journal | Lancet (London, England)
(Lancet)
Vol. 356
Issue 9247
Pg. 2068-9
(Dec 16 2000)
ISSN: 0140-6736 [Print] England |
PMID | 11145497
(Publication Type: Letter, Research Support, Non-U.S. Gov't)
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Chemical References |
- DNA, Mitochondrial
- RNA, Transfer, Leu
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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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