Sumegi B, Melegh B, Adamovich K, Trombitas K
Department of Biochemistry, University Medical School Szigeti, Hungary.
Clin Chim Acta. 1990 Nov 15;192(1):9-18. doi: 10.1016/0009-8981(90)90266-u.
Cytochrome oxidase deficiency was detected in the skeletal muscle of a newborn floppy child. There was a significant decrease in the quantity of subunit 5 and 6 of cytochrome oxidase as showed in Western blot with cytochrome oxidase antibody. By contrast, the NADH: cytochrome c oxidoreductase activity was normal. Electron microscopic studies revealed serious distortion in the myofibres with broken Z-bands and disorganized fibers. The relative molecular mass of actin in the myopathic muscle was smaller than in control. The diffuse actin band in Western blot suggested a proteolytic degradation of F-actin in the myopathic muscle. There was also a serious distortion in the mitochondrial structure. Cytochrome oxidase has a direct role in the formation of cristae and mutation in its components may be directly responsible for the abnormal structure.
在一名新生儿松软儿的骨骼肌中检测到细胞色素氧化酶缺乏。用细胞色素氧化酶抗体进行蛋白质免疫印迹分析显示，细胞色素氧化酶亚基5和6的数量显著减少。相比之下，NADH：细胞色素c氧化还原酶活性正常。电子显微镜研究显示肌纤维严重变形，Z带断裂，纤维排列紊乱。病变肌肉中肌动蛋白的相对分子质量低于对照组。蛋白质免疫印迹分析中弥散的肌动蛋白条带提示病变肌肉中F-肌动蛋白存在蛋白水解降解。线粒体结构也存在严重变形。细胞色素氧化酶在嵴的形成中起直接作用，其成分的突变可能直接导致异常结构的产生。
