title: Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy.
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.
authors: Centre de référence des Maladies Neuromusculaires, Nice Hospital, CNRS, UMR 6543, Faculté de Médicine, Nice, France. sacconi@unice.fr <sacconi@unice.fr>
authors: Sabrina
authors: S
authors: Sacconi
authors: Eva
authors: E
authors: Trevisson
authors: Leonardo
authors: L
authors: Salviati
authors: Ségolène
authors: S
authors: Aymé
authors: Odile
authors: O
authors: Rigal
authors: Alberto Garcia
authors: AG
authors: Redondo
authors: Michelangelo
authors: M
authors: Mancuso
authors: Gabriele
authors: G
authors: Siciliano
authors: Paola
authors: P
authors: Tonin
authors: Corrado
authors: C
authors: Angelini
authors: Karine
authors: K
authors: Auré
authors: Anne
authors: A
authors: Lombès
authors: Claude
authors: C
authors: Desnuelle
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D015331:Cohort Studies; D004272:DNA, Mitochondrial; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D017240:Mitochondrial Myopathies / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism*; D018482:Muscle, Skeletal / Q000378:metabolism*; D009154:Mutation; D010641:Phenotype; D016896:Treatment Outcome; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000172:deficiency / Q000378:metabolism / Q000627:therapeutic use; D055815:Young Adult
chemical_list: D004272:DNA, Mitochondrial; D014451:Ubiquinone; C024989:coenzyme Q10