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

被引：171

作者：

Keightley, JA

Hoffbuhr, KC

Burton, MD

Salas, VM

Johnston, WSW

Penn, AMW

Buist, NRM

Kennaway, NG

机构：

[1] OREGON HLTH SCI UNIV, DEPT MOLEC & MED GENET, PORTLAND, OR 97201 USA

[2] OREGON HLTH SCI UNIV, DEPT NEUROL, PORTLAND, OR 97201 USA

[3] OREGON HLTH SCI UNIV, DEPT PEDIAT, PORTLAND, OR 97201 USA

[4] UNIV ALBERTA, DIV NEUROL, EDMONTON, AB, CANADA

来源：

NATURE GENETICS | 1996年 / 12卷 / 04期

关键词：

D O I：

10.1038/ng0496-410

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：410 / 416

页数：7

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