Coenzyme Q₁₀ deficiency in mitochondrial DNA depletion syndromes

Mitochondrion. 2013 Jul;13(4):337-41. doi: 10.1016/j.mito.2013.04.001. Epub 2013 Apr 11.

Abstract

We evaluated coenzyme Q₁₀ (CoQ) levels in patients studied under suspicion of mitochondrial DNA depletion syndromes (MDS) (n=39). CoQ levels were quantified by HPLC, and the percentage of mtDNA depletion by quantitative real-time PCR. A high percentage of MDS patients presented with CoQ deficiency as compared to other mitochondrial patients (Mann-Whitney-U test: p=0.001). Our findings suggest that MDS are frequently associated with CoQ deficiency, as a possible secondary consequence of disease pathophysiology. Assessment of muscle CoQ status seems advisable in MDS patients since the possibility of CoQ supplementation may then be considered as a candidate therapy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Ataxia / diagnosis
  • Ataxia / epidemiology*
  • Child
  • Child, Preschool
  • Chromatography, High Pressure Liquid
  • DNA, Mitochondrial / analysis
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Metabolism, Inborn Errors / complications*
  • Mitochondrial Diseases / complications*
  • Mitochondrial Diseases / diagnosis
  • Mitochondrial Diseases / epidemiology*
  • Mitochondrial Myopathies / complications*
  • Muscle Weakness / diagnosis
  • Muscle Weakness / epidemiology*
  • Muscular Diseases / complications*
  • Real-Time Polymerase Chain Reaction
  • Ubiquinone / analogs & derivatives
  • Ubiquinone / analysis
  • Ubiquinone / deficiency*
  • Young Adult

Substances

  • DNA, Mitochondrial
  • Ubiquinone
  • coenzyme Q10

Supplementary concepts

  • Coenzyme Q10 Deficiency
  • Deoxyguanosine Kinase Deficiency
  • Mitochondrial DNA Depletion Syndrome, Myopathic Form
  • Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive