title: Biochemical Assessment of Coenzyme Q10Deficiency.
abstract: Coenzyme Q10(CoQ10) deficiency syndrome includes clinically heterogeneous mitochondrial diseases that show a variety of severe and debilitating symptoms. A multiprotein complex encoded by nuclear genes carries out CoQ10biosynthesis. Mutations in any of these genes are responsible for the primary CoQ10deficiency, but there are also different conditions that induce secondary CoQ10deficiency including mitochondrial DNA (mtDNA) depletion and mutations in genes involved in the fatty acid β-oxidation pathway. The diagnosis of CoQ10deficiencies is determined by the decrease of its content in skeletal muscle and/or dermal skin fibroblasts. Dietary CoQ10supplementation is the only available treatment for these deficiencies that require a rapid and distinct diagnosis. Here we review methods for determining CoQ10content by HPLC separation and identification using alternative approaches including electrochemical detection and mass spectrometry. Also, we review procedures to determine the CoQ10biosynthesis rate using labeled precursors.
authors.affiliation: Laboratorio de Fisiopatología Celular y Bioenergética, 41013 Sevilla, Spain. jcrodagu@upo.es.|Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Universidad Pablo de Olavide-CISC, 41013 Sevilla, Spain. jcrodagu@upo.es.
authors.forename: Juan Carlos
authors.initials: JC
authors.lastname: Rodríguez-Aguilera
authors.affiliation: Laboratorio de Fisiopatología Celular y Bioenergética, 41013 Sevilla, Spain. abcorrod@upo.es.|Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Universidad Pablo de Olavide-CISC, 41013 Sevilla, Spain. abcorrod@upo.es.
authors.forename: Ana Belén
authors.initials: AB
authors.lastname: Cortés
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Universidad Pablo de Olavide-CISC, 41013 Sevilla, Spain. dmorfer@upo.es.|Centro Andaluz de Biología del Desarrollo, 41013 Sevilla, Spain. dmorfer@upo.es.
authors.forename: Daniel J M
authors.initials: DJ
authors.lastname: Fernández-Ayala
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Universidad Pablo de Olavide-CISC, 41013 Sevilla, Spain. pnavas@upo.es.|Centro Andaluz de Biología del Desarrollo, 41013 Sevilla, Spain. pnavas@upo.es.
authors.forename: Plácido
authors.initials: P
authors.lastname: Navas
keywords: CoQ10 biosynthesis; CoQ10 deficiency syndrome; coenzyme Q10; mitochondria diseases