Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes

Montero, R. ; Grazina, M. ; López-Gallardo, E. (Universidad de Zaragoza) ; Montoya, J. (Universidad de Zaragoza) ; Briones, P. ; Navarro-Sastre, A. ; Land, J. M. ; Hargreaves, I. P. ; Artuch, R. ; del, Mar O. ; Jou, C. ; Jimenez, C. ; Buján, N. ; Pineda, M. ; García-Cazorla, A. ; Nascimento, A. ; Perez-Dueñas, B. ; Ruiz-Pesini, E. (Universidad de Zaragoza) ; Fratter, C. ; Salviati, L. ; Simões, M. ; Mendes, C. ; JoãoSantos, M. ; Diogo, L. ; Garcia, P. ; Navas, P.

Resumen: 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.

Idioma: Inglés

DOI: 10.1016/j.mito.2013.04.001

Año: 2013

Publicado en: MITOCHONDRION 13, 4 (2013), 337-341
ISSN: 1567-7249

Factor impacto JCR: 3.524 (2013)

Categ. JCR: GENETICS & HEREDITY rank: 52 / 164 = 0.317 (2013) - Q2 - T1
Categ. JCR: CELL BIOLOGY rank: 85 / 184 = 0.462 (2013) - Q2 - T2

Tipo y forma: Artículo (Versión definitiva)

Área (Departamento): Área Bioquímica y Biolog.Mole. (Dpto. Bioq.Biolog.Mol. Celular)