A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria
A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria
复制标题
DOI：
10.1038/ng0496-410
复制
发表时间：
1996-04-01
期刊：
影响因子：
30.8
通讯作者：
Kennaway, NG
中科院分区：
文献类型：
--
作者：
Keightley, JA;Hoffbuhr, KC;Kennaway, NG
我们在一例严重的孤立性考克斯缺乏症和反复肌红蛋白尿症患者的细胞色素c氧化酶（考克斯）亚单位III基因的高度保守区发现了一个15 bp的微缺失。免疫印迹和免疫细胞化学表明缺乏组装或不稳定的复合物。显微解剖的肌纤维显示，COX阴性的突变mtDNA的比例显着高于COX阳性纤维。这代表了第一例孤立的考克斯缺乏症被定义在分子水平上。
We have identified a 15-bp microdeletion in a highly conserved region of the mitochondrially encoded gene for cytochrome c oxidase (COX) subunit III in a patient with severe isolated COX deficiency and recurrent myoglobinuria, The mutant mitochondrial DNA (mtDNA) comprised 92% of the mtDNA in muscle and 0.7% in leukocytes. Immunoblots and immunocytochemistry suggested a lack of assembly or instability of the complex. Microdissected muscle fibres revealed significantly higher proportions of mutant mtDNA in COX-negative than in COX-positive fibres. This represents the first case of isolated COX deficiency to be defined at the molecular level.