Deficiency in ubiquinone cytochrome c reductase in a patient with mitochondrial myopathy and lactic acidosis.
Deficiency in ubiquinone cytochrome c reductase in a patient with mitochondrial myopathy and lactic acidosis.
复制标题
线粒体肌病和乳酸性酸中毒患者缺乏泛醌细胞色素 C 还原酶。
DOI：
10.1073/pnas.80.16.5103
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发表时间：
1983
影响因子：
11.1
通讯作者：
Capaldi,RA
中科院分区：
文献类型：
--
作者：
Darley-Usmar,VM;Kennaway,NG;Buist,NR;Capaldi,RA
骨骼肌的线粒体肌病患者进行了检查。通过活性测量和低水平的可还原细胞色素B，在复合物III的位置处确定了电子传递链中的缺陷。通过抗体结合实验测定患者线粒体中复合物III的多肽组成。该方法允许在10-40 ng蛋白质的下限下检测单个多肽。因此，可以通过使用1 g组织的活检样品来表征蛋白质组成。核心蛋白、FeS蛋白和VI亚基的水平在患者的线粒体中大大降低。细胞色素c1多肽被发现在正常水平，但敏感的胰蛋白酶的蛋白水解。这些结果表明，复合物III并未在患者的线粒体中组装。细胞色素B作为网站的原发性病变的可能作用进行了讨论。
The skeletal muscle of a patient with a mitochondrial myopathy was examined. A defect in the electron transport chain was identified at the position of complex III by activity measurements and the low levels of reducible cytochrome b. The polypeptide composition of complex III in the patient's mitochondria was determined by antibody binding experiments. The method allowed detection of individual polypeptides at a lower limit of 10-40 ng of protein. Characterization of protein composition is thus possible by using a biopsy sample of 1 g of tissue. The level of core proteins, FeS protein, and subunit VI was greatly diminished in the patient's mitochondria. Cytochrome c1 polypeptide was found at normal levels but was sensitive to proteolysis by trypsin. These results show that complex III is not assembled in the patient's mitochondria. The possible role of cytochrome b as the site of the primary lesion is discussed.