Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes

Clin Biochem. 2008 Jun;41(9):697-700. doi: 10.1016/j.clinbiochem.2008.03.007. Epub 2008 Mar 20.

Abstract

Objectives: To study CoQ(10) concentrations in muscle and fibroblast from 6 patients with a CoQ(10) deficiency syndrome.

Design and methods: CoQ(10) was quantified by HPLC with electrochemical detection.

Results: Four out of the 6 cases showed muscle CoQ(10) deficiency plus a reduction of mitochondrial respiratory chain enzyme activities. All cases showed decreased CoQ(10) values in fibroblasts when compared with controls.

Conclusions: Biochemical study of CoQ(10) in both muscle and fibroblasts seems advisable to demonstrate the deficiency in all patients.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Biomarkers / metabolism
  • Child
  • Child, Preschool
  • Electron Transport / physiology
  • Fibroblasts / enzymology*
  • Humans
  • Infant
  • Infant, Newborn
  • Middle Aged
  • Mitochondria, Muscle / enzymology*
  • Mitochondria, Muscle / genetics
  • Muscle, Skeletal / enzymology*
  • Syndrome
  • Ubiquinone / analogs & derivatives*
  • Ubiquinone / analysis
  • Ubiquinone / biosynthesis
  • Ubiquinone / deficiency
  • Ubiquinone / genetics

Substances

  • Biomarkers
  • Ubiquinone
  • coenzyme Q10