The molecular genetics of coenzyme Q biosynthesis in health and disease

Leila N Laredj; Floriana Licitra; Hélène M Puccio

doi:10.1016/j.biochi.2013.12.006

The molecular genetics of coenzyme Q biosynthesis in health and disease

Biochimie. 2014 May:100:78-87. doi: 10.1016/j.biochi.2013.12.006. Epub 2013 Dec 16.

Authors

Leila N Laredj¹, Floriana Licitra¹, Hélène M Puccio²

Affiliations

¹ Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch, France; Inserm, U596, Illkirch, France; CNRS, UMR 7104, Illkirch, France; Université de Strasbourg, Strasbourg, France; Collège de France, Chaire de génétique humaine, Illkirch, France.
² Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch, France; Inserm, U596, Illkirch, France; CNRS, UMR 7104, Illkirch, France; Université de Strasbourg, Strasbourg, France; Collège de France, Chaire de génétique humaine, Illkirch, France. Electronic address: hpuccio@igbmc.fr.

PMID: 24355204
DOI: 10.1016/j.biochi.2013.12.006

Abstract

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.

Keywords: Ataxia; Coenzyme Q; Lipid metabolism; Mitochondria; Mouse models.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Animals
Ataxia / genetics*
Ataxia / metabolism
Ataxia / pathology
Disease Models, Animal
Gene Expression Regulation
Humans
Hydroxymethylglutaryl-CoA Reductase Inhibitors / metabolism
Hydroxymethylglutaryl-CoA Reductase Inhibitors / pharmacology
Mevalonic Acid / metabolism
Mice
Mitochondria / drug effects
Mitochondria / genetics*
Mitochondria / metabolism
Mitochondrial Diseases / genetics*
Mitochondrial Diseases / metabolism
Mitochondrial Diseases / pathology
Mitochondrial Proteins / genetics*
Mitochondrial Proteins / metabolism
Muscle Weakness / genetics*
Muscle Weakness / metabolism
Muscle Weakness / pathology
Mutation
Saccharomyces cerevisiae / drug effects
Saccharomyces cerevisiae / genetics
Saccharomyces cerevisiae / metabolism
Saccharomyces cerevisiae Proteins / genetics
Saccharomyces cerevisiae Proteins / metabolism
Ubiquinone / biosynthesis
Ubiquinone / deficiency*
Ubiquinone / genetics*
Ubiquinone / metabolism

Substances

Hydroxymethylglutaryl-CoA Reductase Inhibitors
Mitochondrial Proteins
Saccharomyces cerevisiae Proteins
Ubiquinone
Mevalonic Acid

Supplementary concepts

Coenzyme Q10 Deficiency