MTDNA MUTATION IN MERRF-SYNDROME CAUSES DEFECTIVE AMINOACYLATION OF TRNA(LYS) AND PREMATURE TRANSLATION TERMINATION
MTDNA MUTATION IN MERRF-SYNDROME CAUSES DEFECTIVE AMINOACYLATION OF TRNA(LYS) AND PREMATURE TRANSLATION TERMINATION
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DOI：
10.1038/ng0595-47
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发表时间：
1995-05-01
期刊：
影响因子：
30.8
通讯作者：
ATTARDI, G
中科院分区：
文献类型：
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作者：
ENRIQUEZ, JA;CHOMYN, A;ATTARDI, G
我们研究了与MERRF脑肌病相关的线粒体tRNA（Lys）基因突变（位置8344）的发病机制，在几个线粒体DNA（mtDNA）-少细胞转化携带突变和对照细胞。在突变体细胞中，发现每个细胞的特异性tRNA（Lys）氨酰化能力降低了50-60%。此外，一些证据表明，MERRF突变携带细胞中严重的蛋白质合成障碍是由于每个赖氨酸密码子或其附近的翻译提前终止，氨酰化tRNA（Lys）的缺乏是这种现象的最可能原因。
We have investigated the pathogenetic mechanism of the mitochondrial tRNA(Lys) gene mutation (position 8344) associated with MERRF encephalomyopathy in several mitochondrial DNA (mtDNA)-less cell transformants carrying the mutation and in control cells. A decrease of 50-60% in the specific tRNA(Lys) aminoacylation capacity per cell was found in mutant cells. Furthermore, several lines of evidence reveal that the severe protein synthesis impairment in MERRF mutation-carrying cells is due to premature termination of translation at each or near each lysine codon, with the deficiency of aminoacylated tRNA(Lys) being the most likely cause of this phenomenon.