Increased risk of stroke in patients with the A12308G polymorphism in mitochondria
Increased risk of stroke in patients with the A12308G polymorphism in mitochondria
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DOI：
10.1016/s0140-6736(00)03408-5
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发表时间：
2000-12-16
期刊：
影响因子：
168.9
通讯作者：
Hanna, MG
中科院分区：
文献类型：
--
作者：
Pulkes, T;Sweeney, MG;Hanna, MG
增加人类线粒体DNA A3243G（线粒体脑肌病、乳酸酸中毒和中风[MELAS]）突变患者中风风险的因素尚不清楚。先前对携带A3243G突变的肺癌细胞的研究表明，亮氨酸tRNA线粒体转移基因（Leu(CUN)）的突变能够改善A3243G诱导的生化表型。我们分析了48例无亲缘关系的A3243G病例的tRNA（Leu(CUN)）基因。我们发现tRNA（Leu(CUN)）中的A12308G多态性增加了A3243G突变患者发生卒中的风险（相对风险=2.17）。这可能会对遗传咨询产生影响。
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.