Assembly of the oxidative phosphorylation system in humans: What we have learned by studying its defects

被引：162

作者：

Fernandez-Vizarra, Erika ^{[1
]}

Tiranti, Valeria ^{[1
]}

Zeviani, Massimo ^{[1
]}

机构：

[1] Fdn IRCCS Neurol Inst C Besta, Dept Mol Neurogenet, I-20126 Milan, Italy

来源：

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH | 2009年 / 1793卷 / 01期

关键词：

Oxidative phosphorylation; OXPHOS; Mitochondrial respiratory chain; Respiratory chain complex; Assembly; Mitochondrial disorder; Mitochondrial DNA; Mitochondrial inner membrane; Electron transfer chain; CYTOCHROME-C-OXIDASE; MITOCHONDRIAL-COMPLEX-I; BOVINE HEART-MITOCHONDRIA; RESPIRATORY-CHAIN SUPERCOMPLEXES; DNA-ENCODED SUBUNITS; STOP-CODON MUTATION; PROGRESSIVE EXERCISE INTOLERANCE; BLUE NATIVE ELECTROPHORESIS; LEIGH-SYNDROME PATIENT; CULTURED HUMAN-CELLS;

D O I：

10.1016/j.bbamcr.2008.05.028

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Assembly of the oxidative phosphorylation (OXPHOS) system in the mitochondrial inner membrane is an intricate process in which many factors must interact. The OXPHOS system is composed of four respiratory chain complexes, which are responsible for electron transport and generation of the proton gradient in the mitochondrial intermembrane space, and of the ATP synthase that uses this proton gradient to produce ATP. Mitochondrial human disorders are caused by dysfunction of the OXPHOS system, and many of them are associated with altered assembly of one or more components of the OXPHOS system. The study of assembly defects in patients has been useful in unraveling and/or gaining a complete understanding of the processes by which these large multimeric complexes are formed. We review here current knowledge of the biogenesis of OXPHOS complexes based on investigation of the corresponding disorders. (C) 2008 Elsevier B.V. All rights reserved.

引用

页码：200 / 211

页数：12

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