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.

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