Format

Send to

Choose Destination
See comment in PubMed Commons below
Neuromuscul Disord. 2010 Jan;20(1):44-8. doi: 10.1016/j.nmd.2009.10.014. Epub 2009 Nov 27.

Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy.

Author information

  • 1Centre de référence des Maladies Neuromusculaires, Nice Hospital, CNRS, UMR 6543, Faculté de Médicine, Nice, France. sacconi@unice.fr <sacconi@unice.fr>

Abstract

Coenzyme Q(10) (CoQ(10)) deficiency has been associated with an increasing number of clinical phenotypes. Whereas primary CoQ(10) defects are related to mutations in ubiquinone biosynthetic genes, which are now being unraveled, and respond well to CoQ(10) supplementation, the etiologies, and clinical phenotypes related to secondary deficiencies are largely unknown. The purpose of this multicenter study was to evaluate the frequency of muscle CoQ(10) deficiency in a cohort of 76 patients presenting with clinically heterogeneous mitochondrial phenotypes which included myopathy among their clinical features. A reliable diagnostic tool based on HPLC quantification was employed to measure muscle CoQ(10) levels. A significant proportion of these patients (28 over 76) displayed CoQ(10) deficiency that was clearly secondary in nine patients, who harbored a pathogenic mutation of mitochondrial DNA. This study provides a rationale for future therapeutic trials on the effect of CoQ(10) supplementation in patients with mitochondrial diseases presenting with myopathy among clinical features.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Write to the Help Desk