Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS).
Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS).
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呼吸缺陷细胞是由线粒体肌病、脑病、乳酸性酸中毒和中风样发作 (MELAS) 中线粒体 tRNA-Leu (UUR) 基因的单点突变引起的。
DOI：
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发表时间：
1991
影响因子：
9.8
通讯作者：
Shigeo Ohta
中科院分区：
文献类型：
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作者：
Y. Kobayashi;M. Momoi;Kaoru Tominaga;Hideo Shimoizumi;Kenji Nihei;M. Yanagisawa;Y. Kagawa;Shigeo Ohta
MELAS（线粒体肌病、脑病、乳酸性酸中毒和中风样发作）是异质性线粒体疾病的一个主要亚组。为了识别线粒体基因的突变，我们从 MELAS 患者的同一肌肉组织中分离出具有明显不同表型的细胞系：一种是呼吸缺陷的，另一种是明显正常的。与正常细胞相比，呼吸缺陷细胞的整个mtDNA中仅在tRNA-Leu（UUR）基因的第3243位核苷酸处发现了一个A到G的核苷酸转换。这种突变也在来自无关家庭的 8 名患者中发现，这些患者以异质性方式患有 MELAS，但在对照个体中未发现。因此，单点突变导致线粒体呼吸链功能异常。
MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes) is a major subgroup of heterogeneous mitochondrial diseases. For identifying a mutation in the mitochondrial gene, we isolated, from the same muscle tissue from a patient with MELAS, cell lines with distinctly different phenotypes: one was respiration-deficient, and the other was apparently normal. Compared with the normal cells, only one A-to-G nucleotide transition at nucleotide 3243 in the tRNA-Leu (UUR) gene was found in whole mtDNA of the respiration-deficient cells. This mutation was also found in eight patients, from unrelated families, who had MELAS in a heteroplasmic manner but was not found in control individuals. Therefore, the single point mutation causes the functional abnormality in the respiratory chain of mitochondria.
影响因子：
3.3
作者：
R. Cann;W. Brown;A. Wilson
通讯作者：
R. Cann;W. Brown;A. Wilson
在分离的人线粒体中，rRNA 合成和 mtDNA 轻链转录与 mRNA 合成的 ATP 需求明显不同。
DOI：
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发表时间：
1987
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
Gaines,G;Rossi,C;Attardi,G
通讯作者：
Attardi,G