title: Molecular diagnosis of coenzyme Q10 deficiency.
abstract: Coenzyme Q10 (CoQ) deficiency syndromes comprise a growing number of neurological and extraneurological disorders. Primary-genetic but also secondary CoQ deficiencies have been reported. The biochemical determination of CoQ is a good tool for the rapid identification of CoQ deficiencies but does not allow the selection of candidate genes for molecular diagnosis. Moreover, the metabolic pathway for CoQ synthesis is an intricate and not well-understood process, where a large number of genes are implicated. Thus, only next-generation sequencing techniques (either genetic panels of whole-exome and -genome sequencing) are at present appropriate for a rapid and realistic molecular diagnosis of these syndromes. The potential treatability of CoQ deficiency strongly supports the necessity of a rapid molecular characterization of patients, since primary CoQ deficiencies may respond well to CoQ treatment.
authors.affiliation: Department of Genetic and Molecular Medicine, and Pediatric Institute for Rare Diseases (IPER), Hospital Sant Joan de Déu, and CIBER de Enfermedades Raras (CIBERER), Barcelona, Spain.
authors.forename: Delia
authors.initials: D
authors.lastname: Yubero
authors.forename: Raquel
authors.initials: R
authors.lastname: Montero
authors.forename: Judith
authors.initials: J
authors.lastname: Armstrong
authors.forename: Carmen
authors.initials: C
authors.lastname: Espinós
authors.forename: Francesc
authors.initials: F
authors.lastname: Palau
authors.forename: Carlos
authors.initials: C
authors.lastname: Santos-Ocaña
authors.forename: Leonardo
authors.initials: L
authors.lastname: Salviati
authors.forename: Placido
authors.initials: P
authors.lastname: Navas
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
mesh_terms: D001259:Ataxia / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000235:genetics; D025202:Molecular Diagnostic Techniques; D018908:Muscle Weakness / Q000175:diagnosis* / Q000235:genetics; D014451:Ubiquinone / Q000172:deficiency* / Q000235:genetics; D015003:Yeasts / Q000235:genetics
chemical_list: D014451:Ubiquinone
keywords: coenzyme Q10 deficiency syndromes; functional studies in yeasts; mitochondrial diseases; muscle biopsy; next-generation sequencing