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首页> 外文期刊>Molecular and Cellular Biology >Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes.
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Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes.

机译：线粒体蛋白合成和呼吸链活性的缺陷与与线粒体肌病，脑病，乳酸性酸中毒和中风样发作相关的tRNA（Leu（UUR））突变分离。

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摘要

Cytoplasts from two unrelated patients with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes) harboring an A----G transition at nucleotide position 3243 in the tRNA(Leu(UUR)) gene of the mitochondrial genome were fused with human cells lacking endogenous mitochondrial DNA (mtDNA) (rho 0 cells). Selected cybrid lines, containing less than 15 or greater than or equal to 95% mutated genomes, were examined for differences in genetic, biochemical, and morphological characteristics. Cybrids containing greater than or equal to 95% mutant mtDNA, but not those containing normal mtDNA, exhibited decreases in the rates of synthesis and in the steady-state levels of the mitochondrial translation products. In addition, NADH dehydrogenase subunit 1 (ND 1) exhibited a slightly altered mobility on polyacrylamide gel electrophoresis. The mutation also correlated with a severe respiratory chain deficiency. A small but consistent increase in the steady-state levels of an RNA transcript corresponding to 16S rRNA + tRNA(Leu(UUR)) + ND 1 genes was detected. However, there was no evidence of major errors in processing of the heavy-strand-encoded transcripts or of altered steady-state levels or ratios of mitochondrial rRNAs or mRNAs. These results provide evidence for a direct relationship between the tRNALeu(UUR) mutation and the pathogenesis of this mitochondrial disease.
机译：将来自两名不相关的MELAS患者（线粒体肌病，脑病，乳酸性酸中毒和中风样发作）的细胞质与线粒体基因组tRNA（Leu（UUR））基因第3243位核苷酸处有A ---- G过渡的细胞质融合缺乏内源性线粒体DNA（mtDNA）的人类细胞（rho 0细胞）。检查选定的杂种系，其少于15％或大于或等于95％的突变基因组，检查其遗传，生化和形态特征的差异。含有大于或等于95％突变mtDNA的细胞，但不含有正常mtDNA的细胞，其线粒体翻译产物的合成速率和稳态水平均下降。此外，NADH脱氢酶亚基1（ND 1）在聚丙烯酰胺凝胶电泳上显示出略微改变的迁移率。该突变还与严重的呼吸链缺乏相关。检测到与16S rRNA + tRNA（Leu（UUR））+ ND 1基因相对应的RNA转录本的稳态水平有一个小而稳定的增加。但是，没有证据表明在处理重链编码的转录本或线粒体rRNA或mRNA的稳态水平或比率发生变化时存在重大错误。这些结果为tRNALeu（UUR）突变与该线粒体疾病的发病机理之间的直接关系提供了证据。

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