Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes

• Main Author: Montero, Raquel
• Publication Date: 2013
• Other Authors: Grazina, Manuela, López-Gallardo, Ester, Montoya, Julio, Briones, Paz, Navarro-Sastre, Aleix, Land, John M., Hargreaves, Iain P., Artuch, Rafael, O'Callaghan, Maria del Mar, Jou, Cristina, Jimenez, Cecilia, Buján, Nuria, Pineda, Mercè, García-Cazorla, Angels, Nascimento, Andrés, Perez-Dueñas, Belen, Ruiz-Pesini, Eduardo, Fratter, Carl, Salviati, Leonardo, Simões, Marta, Mendes, Cândida, Santos, Maria João, Diogo, Luísa, Garcia, Paula, Navas, Plácido
• Format: Article
• Language: eng
• Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
• Download full: https://hdl.handle.net/10316/27281; https://doi.org/10.1016/j.mito.2013.04.001
• topic: Mitochondrial DNA depletion syndrome; Coenzyme Q10 deficiency; Mitochondrial disorders

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.