Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy.
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.
Sacconi
Sabrina
S
Centre de référence des Maladies Neuromusculaires, Nice Hospital, CNRS, UMR 6543, Faculté de Médicine, Nice, France. sacconi@unice.fr <sacconi@unice.fr>
Trevisson
Eva
E
Salviati
Leonardo
L
Aymé
Ségolène
S
Rigal
Odile
O
Redondo
Alberto Garcia
AG
Mancuso
Michelangelo
M
Siciliano
Gabriele
G
Tonin
Paola
P
Angelini
Corrado
C
Auré
Karine
K
Lombès
Anne
A
Desnuelle
Claude
C
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
D004272:DNA, Mitochondrial; D014451:Ubiquinone; C024989:coenzyme Q10