The molecular genetics of coenzyme Q biosynthesis in health and disease

被引：54

作者：

Laredj, Leila N. ^{[1
,2
,3
,4
,5
]}

Licitra, Floriana ^{[1
,2
,3
,4
,5
]}

Puccio, Helene M. ^{[1
,2
,3
,4
,5
]}

机构：

[1] IGBMC, Illkirch Graffenstaden, France

[2] INSERM, U596, Illkirch Graffenstaden, France

[3] CNRS, UMR 7104, Illkirch Graffenstaden, France

[4] Univ Strasbourg, Strasbourg, France

[5] Coll France, Chaire Genet Humaine, Illkirch Graffenstaden, France

来源：

BIOCHIMIE | 2014年 / 100卷

基金：

欧洲研究理事会;

关键词：

Coenzyme Q; Mitochondria; Mouse models; Ataxia; Lipid metabolism; O-METHYLTRANSFERASE STEPS; SACCHAROMYCES-CEREVISIAE; CEREBELLAR-ATAXIA; PARA-HYDROXYBENZOATE; NEPHROTIC SYNDROME; UBIQUINONE BIOSYNTHESIS; MITOCHONDRIAL PROTEIN; Q(10) SUPPLEMENTATION; EMBRYONIC-DEVELOPMENT; MULTISUBUNIT COMPLEX;

D O I：

10.1016/j.biochi.2013.12.006

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：

Coenzyme Q or ubiquinone, is an endogenously synthesized lipid-soluble antioxidant that plays a major role in the mitochondrial respiratory chain. Although extensively studied for decades, recent data on coenzyme Q have painted an exciting albeit incomplete picture of the multiple facets of this molecule's function. In humans, mutations in the genes involved in the biosynthesis of coenzyme Q lead to a heterogeneous group of rare disorders, with most often severe and debilitating symptoms. In this review, we describe the current understanding of coenzyme Q biosynthesis, provide a detailed overview of human coenzyme Q deficiencies and discuss the existing mouse models for coenzyme Q deficiency. Furthermore, we briefly examine the current state of affairs in non-mitochondrial coenzyme Q functions and the latter's link to statin. (C) 2013 Elsevier Masson SAS. All rights reserved.

引用

页码：78 / 87

页数：10

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