Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene

被引：41

作者：

Coenen, MJH

van den Heuvel, LP

Ugalde, C

ten Brinke, M

Nijtmans, LGJ

Trijbels, FJM

Beblo, S

Maier, EM

Muntau, AC

Smeitink, JAM

机构：

[1] Univ Nijmegen, Ctr Med, Dept Paediat, Nijmegen Ctr Mitochondrial Disorders, NL-6500 HB Nijmegen, Netherlands

[2] Univ Munich, Dr Von Hauner Childrens Hosp, Metab Dept, Munich, Germany

来源：

ANNALS OF NEUROLOGY | 2004年 / 56卷 / 04期

关键词：

D O I：

10.1002/ana.20229

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report a cytochrome c oxidase (COX)-deficient patient, clinically affected with Leigh-like disease, with a homozygous mutation in the COX10 start codon. Two-dimensional gel electrophoresis showed a decrease of fully assembled COX without the accumulation of partially assembled COX subcomplexes. Western blot analysis with antibodies directed to COX subunits I, II, and IV showed a decrease of these subunits in this patient compared with control. Overexpression of the COX10 protein in the patient's fibroblasts proved that the detected mutation was indeed the disease cause.

引用

页码：560 / 564

页数：5

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