Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes

• Autor(es): Montero, Raquel ; 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, Luisa ; Garcia, Paula ; Navas, Plácido
• Data: 2013
• Identificador Persistente: http://hdl.handle.net/10316/27281
• Origem: Estudo Geral - Universidade de Coimbra
• Assunto(s): Mitochondrial DNA depletion syndrome; Coenzyme Q10 deficiency; Mitochondrial disorders
• Tipo de Documento: Artigo
• Idioma: Inglês

Descrição

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.