title: Coenzyme Q₁₀ deficiency in mitochondrial DNA depletion syndromes.
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.
authors.affiliation: Clinical Chemistry, Pathology and Neurology Departments, Hospital Sant Joan de Déu, Barcelona, Spain.
authors.forename: Raquel
authors.initials: R
authors.lastname: Montero
authors.forename: Manuela
authors.initials: M
authors.lastname: Grazina
authors.forename: Ester
authors.initials: E
authors.lastname: López-Gallardo
authors.forename: Julio
authors.initials: J
authors.lastname: Montoya
authors.forename: Paz
authors.initials: P
authors.lastname: Briones
authors.forename: Aleix
authors.initials: A
authors.lastname: Navarro-Sastre
authors.forename: John M
authors.initials: JM
authors.lastname: Land
authors.forename: Iain P
authors.initials: IP
authors.lastname: Hargreaves
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
mesh_terms: D000293:Adolescent; D001259:Ataxia / Q000175:diagnosis / Q000453:epidemiology*; D002648:Child; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D004272:DNA, Mitochondrial / Q000032:analysis; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications*; D028361:Mitochondrial Diseases / Q000150:complications* / Q000175:diagnosis / Q000453:epidemiology*; D017240:Mitochondrial Myopathies / Q000150:complications*; D018908:Muscle Weakness / Q000175:diagnosis / Q000453:epidemiology*; D009135:Muscular Diseases / Q000150:complications*; D060888:Real-Time Polymerase Chain Reaction; D014451:Ubiquinone / Q000031:analogs & derivatives / Q000032:analysis / Q000172:deficiency*; D055815:Young Adult
chemical_list: D004272:DNA, Mitochondrial; D014451:Ubiquinone; C024989:coenzyme Q10