细胞色素c氧化酶（COX）亚基III中的微缺失与COX缺乏和复发性肌红蛋白尿相关。

A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria.

作者信息

Keightley J A, Hoffbuhr K C, Burton M D, Salas V M, Johnston W S, Penn A M, Buist N R, Kennaway N G

机构信息

Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201-3098, USA.

出版信息

Nat Genet. 1996 Apr;12(4):410-6. doi: 10.1038/ng0496-410.

DOI:10.1038/ng0496-410

PMID:8630495

Abstract

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 portions 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.

摘要

我们在一名患有严重孤立性细胞色素c氧化酶（COX）缺乏症和复发性肌红蛋白尿的患者中，鉴定出线粒体编码的细胞色素c氧化酶亚基III基因高度保守区域存在一个15个碱基对的微缺失。突变的线粒体DNA（mtDNA）在肌肉中占mtDNA的92%，在白细胞中占0.7%。免疫印迹和免疫细胞化学表明该复合物缺乏组装或不稳定。显微切割的肌纤维显示，COX阴性纤维中的突变mtDNA比例显著高于COX阳性纤维。这是第一例在分子水平上明确的孤立性COX缺乏症病例。