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Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes
Authors:Raquel Montero  Manuela Grazina  Ester López-Gallardo  Julio Montoya  Paz Briones  Aleix Navarro-Sastre  John M Land  Iain P Hargreaves  Rafael Artuch  Maria del Mar O'Callaghan  Cristina Jou  Cecilia Jimenez  Nuria Buján  Mercè Pineda  Angels García-Cazorla  Andrés Nascimento  Plácido Navas
Institution:1. Clinical Chemistry, Pathology and Neurology Departments, Hospital Sant Joan de Déu, Barcelona, Spain;2. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain;3. Faculty of Medicine, University of Coimbra, Portugal;4. Center for Neuroscience and Cell Biology, University of Coimbra, Laboratory of Biochemical Genetics, Portugal;5. Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Spain;6. IBC-Secció d''Errors Congènits del Metabolisme, Servei de Bioquímica i Genètica Molecular, Hospital Clínic. Barcelona, Spain;7. Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, Spain;8. Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK;9. Oxford Medical Genetics Laboratories, Churchill Hospital, Oxford, UK;10. Servizio di Genetica Clinica ed Epidemiologica, Department of Pediatrics, University of Padova, Italy;11. Hospital Pediátrico de Coimbra, Centro Hospitalar e Universitário de Coimbra, Portugal;12. Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC Sevilla, Spain
Abstract: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.
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