Secondary coenzyme Q 10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

• DOI: 10.1016/j.mito.2016.06.007
• Publication Date: 2016-07-02T14:42:22Z
• Authors: Delia Yubero; Raquel Montero; Miguel A. Martín; Julio Montoya; Antonia Ribes; Manuela Grazina; Eva Trevisson; Juan Carlos Rodri...; Iain P. Hargreaves; Leonardo Salviati; Plácido Navas; Rafael Artuch; Cristina Jou; Cecilia Jimenez-M...; Andres Nascimento; Belén Pérez-Dueñas; Carlos Ortez; Federico Ramos; Jaume Colomer; Mar O’Callaghan; Mercè Pineda; Angels García-Caz...; Carmina Espinós; Angels Ruiz; Alfons Macaya; Anna Marcé-Grau; Judit Garcia-Vill...; Angela Arias; Sonia Emperador; Eduardo Ruiz-Pesini; Ester Lopez-Gallardo; Viruna Neergheen; Marta Simões; Luisa Diogo; Alberto Blázquez; Adrián González-Q...; Aitor Delmiro; Cristina Domíngue...; Joaquín Arenas; Mª Teresa García-...; Elena Martín; Pilar Quijada; Aurelio Hernández...; María Morán; Eloy Rivas Infante; Rainiero Ávila Polo; Carmen Paradas Lópe; Juan Bautista Lorite; Eva M. Martínez F...; Ana B. Cortés; Ana Sánchez-Cuesta; Maria V. Cascajo; María Alcázar; Gloria Brea-Calvo
• Keywords: Adult; Male; Mitochondrial respiratory chain; Mitochondrial Diseases; Adolescent; Ubiquinone; Oxidative Phosphorylation; Cohort Studies; Young Adult; 03 medical and health sciences; Prevalence; Humans; Child; Skin; 0303 health sciences; Oxidative phosphorylation disorders; Muscles; Infant, Newborn; Infant; Middle Aged; 3. Good health; Coenzyme Q(10); Child, Preschool; Coenzyme Q10; Female; Muscle biopsy

We evaluated the coenzyme Q₁₀ (CoQ) levels in patients who were diagnosed with mitochondrial oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders (n=72). Data from the 72 cases in this study revealed that 44.4% of patients showed low CoQ concentrations in either their skeletal muscle or skin fibroblasts. Our findings suggest that secondary CoQ deficiency is a common finding in OXPHOS and non-OXPHOS disorders. We hypothesize that cases of CoQ deficiency associated with OXPHOS defects could be an adaptive mechanism to maintain a balanced OXPHOS, although the mechanisms explaining these deficiencies and the pathophysiological role of secondary CoQ deficiency deserves further investigation.