Respiratory-chain diseases related to complex III deficiency

被引：78

作者：

Benit, Paule

Lebon, Sophie

Rustin, Pierre ^{[1
]}

机构：

[1] Hop Robert Debre, INSERM, U676, F-75019 Paris, France

来源：

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

关键词：

Human OXPHOS disease; Mitochondria; Complex III; BC1; complex; BCS1L; QP-C; Cytochrome b; MITOCHONDRIAL-DNA MUTATIONS; CYTOCHROME BC(1) COMPLEX; SACCHAROMYCES-CEREVISIAE; MAMMALIAN MITOCHONDRIA; OPTIC NEUROPATHY; BCS1L GENE; YEAST; SUPEROXIDE; ENCEPHALOPATHY; DISORDERS;

D O I：

10.1016/j.bbamcr.2008.06.004

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：

Complex III deficiencies are among the least common respiratory-chain abnormalities identified to date in humans. Nevertheless, their unexplained tissue specificity and broad clinical spectrum make them a valuable model for investigating respiratory-chain diseases. In this review, we briefly discuss the properties of complex III and the assay conditions relevant to the screening of high-risk patients. We then review the most recent advances in the field, which include the characterization of several disease genes and of the corresponding clinical presentations. Finally, we discuss genetic and biochemical aspects that may help to understand complex III-associated diseases. (C) 2008 Elsevier B.V. All rights reserved.

引用

收藏

页码：181 / 185

页数：5

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