Copper chaperones for cytochrome c oxidase and human disease

被引：51

作者：

Hamza, I ^{[1
]}

Gitlin, JD ^{[1
]}

机构：

[1] Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MO 63110 USA

来源：

JOURNAL OF BIOENERGETICS AND BIOMEMBRANES | 2002年 / 34卷 / 05期

关键词：

copper; metallo chaperone; mitochondria; genetic disease;

D O I：

10.1023/A:1021254104012

中图分类号：

Q6 [生物物理学];

学科分类号：

071011 ;

摘要：

Biological processes in living cells are compartmentalized between lipid membranes. Integral membrane proteins often confer specific functions to these compartments and as such have a critical role in cellular metabolism and function. Cytochrome c oxidase is a macromolecular metalloprotein complex essential for the respiratory function of the cell. Elucidating the mechanisms of assembly of cytochrome c oxidase within the inner mitochondrial membrane represents a unique challenge for understanding metalloprotein biosynthesis. Elegant genetic experiments in yeast have defined several proteins required for copper delivery to cytochrome c oxidase. While the precise role of each of these proteins in copper incorporation remains unclear, recent studies have revealed that inherited mutations in two of these proteins can result in severe pathology in human infants in association with cytochrome c oxidase deficiency. Characterization of the molecular pathogenesis of these disorders offers new insights into the mechanisms of cellular copper metabolism and the role of these cytochrome c oxidase copper chaperones in human disease.

引用

页码：381 / 388

页数：8

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