The molecular genetics of coenzyme Q biosynthesis in health and disease

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 mo...

Full description

Saved in:
Bibliographic Details
Published in:Biochimie 2014-05, Vol.100, p.78-87
Main Authors: Laredj, Leila N, Licitra, Floriana, Puccio, Hélène M
Format: Article
Language:English
Subjects:
Animals
Ataxia - genetics
Ataxia - metabolism
Ataxia - pathology
Biochemistry, Molecular Biology
Disease Models, Animal
Gene Expression Regulation
Humans
Hydroxymethylglutaryl-CoA Reductase Inhibitors - metabolism
Hydroxymethylglutaryl-CoA Reductase Inhibitors - pharmacology
Life Sciences
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
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0300-9084
1638-6183
DOI:10.1016/j.biochi.2013.12.006