Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

• Published in: Mitochondrion Vol. 30; pp. 51 - 58
• Main Authors: Yubero, Delia, Montero, Raquel, Martín, Miguel A, Montoya, Julio, Ribes, Antonia, Grazina, Manuela, Trevisson, Eva, Rodriguez-Aguilera, Juan Carlos, Hargreaves, Iain P, Salviati, Leonardo, Navas, Plácido, Artuch, Rafael, Jou, Cristina, Jimenez-Mallebrera, Cecilia, Nascimento, Andres, Pérez-Dueñas, Belén, Ortez, Carlos, Ramos, Federico, Colomer, Jaume, O'Callaghan, Mar, Pineda, Mercè, García-Cazorla, Angels, Espinós, Carmina, Ruiz, Angels, Macaya, Alfons, Marcé-Grau, Anna, Garcia-Villoria, Judit, Arias, Angela, Emperador, Sonia, Ruiz-Pesini, Eduardo, Lopez-Gallardo, Ester, Neergheen, Viruna, Simões, Marta, Diogo, Luisa, Blázquez, Alberto, González-Quintana, Adrián, Delmiro, Aitor, Domínguez-González, Cristina, Arenas, Joaquín, García-Silva, M Teresa, Martín, Elena, Quijada, Pilar, Hernández-Laín, Aurelio, Morán, María, Rivas Infante, Eloy, Ávila Polo, Rainiero, Paradas Lópe, Carmen, Bautista Lorite, Juan, Martínez Fernández, Eva M, Cortés, Ana B, Sánchez-Cuesta, Ana, Cascajo, Maria V, Alcázar, María, Brea-Calvo, Gloria
• Format: Journal Article
• Language: English
• Published: Netherlands 01.09.2016
• Subjects: Adolescent; Adult; Child; Child, Preschool; Cohort Studies; Female; Humans; Infant; Infant, Newborn; Male; Middle Aged; Mitochondrial Diseases - pathology; Muscles - pathology; Oxidative Phosphorylation; Prevalence; Skin - pathology; Ubiquinone - analogs & derivatives; Ubiquinone - deficiency; Young Adult; Coenzyme Q; Oxidative phosphorylation disorders; Mitochondrial respiratory chain; Muscle biopsy
• ISSN: 1872-8278
• DOI: 10.1016/j.mito.2016.06.007

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.