title: Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.
abstract: We evaluated the coenzyme Q₁₀ (CoQ) levels in patients who were diagnosed with mitochondrial oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders (n=72). Data from the 72 cases in this study revealed that 44.4% of patients showed low CoQ concentrations in either their skeletal muscle or skin fibroblasts. Our findings suggest that secondary CoQ deficiency is a common finding in OXPHOS and non-OXPHOS disorders. We hypothesize that cases of CoQ deficiency associated with OXPHOS defects could be an adaptive mechanism to maintain a balanced OXPHOS, although the mechanisms explaining these deficiencies and the pathophysiological role of secondary CoQ deficiency deserves further investigation.
authors.affiliation: Institut de Recerca Pediàtrica-Hospital Sant Joan de Déu (IRP-HSJD), Barcelona, Spain.
authors.forename: Delia
authors.initials: D
authors.lastname: Yubero
authors.affiliation: Institut de Recerca Pediàtrica-Hospital Sant Joan de Déu (IRP-HSJD), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain.
authors.forename: Raquel
authors.initials: R
authors.lastname: Montero
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain; Mitochondrial and Neuromuscular Disorders Group, Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain.
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Martín
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Spain.
authors.forename: Julio
authors.initials: J
authors.lastname: Montoya
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain; IBC-Secció d'Errors Congènits del Metabolisme, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Barcelona, Spain.
authors.forename: Antonia
authors.initials: A
authors.lastname: Ribes
authors.affiliation: Faculty of Medicine, Center for Neuroscience and Cell Biology, University of Coimbra, Laboratory of Biochemical Genetics, Portugal.
authors.forename: Manuela
authors.initials: M
authors.lastname: Grazina
authors.affiliation: Clinical Genetics Unit, Department of Woman and Child Health, IRP "Città della Speranza", Padova, Italy.
authors.forename: Eva
authors.initials: E
authors.lastname: Trevisson
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain; Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
authors.forename: Juan Carlos
authors.initials: JC
authors.lastname: Rodriguez-Aguilera
authors.affiliation: Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
authors.forename: Iain P
authors.initials: IP
authors.lastname: Hargreaves
authors.affiliation: Clinical Genetics Unit, Department of Woman and Child Health, IRP "Città della Speranza", Padova, Italy.
authors.forename: Leonardo
authors.initials: L
authors.lastname: Salviati
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain; Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
authors.forename: Plácido
authors.initials: P
authors.lastname: Navas
authors.affiliation: Institut de Recerca Pediàtrica-Hospital Sant Joan de Déu (IRP-HSJD), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain. Electronic address: rartuch@hsjdbcn.org.
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
authors.affiliation: Institut de Recerca Pediàtrica-Hospital Sant Joan de Déu (IRP-HSJD), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain.
authors.forename: Cristina
authors.initials: C
authors.lastname: Jou
authors.affiliation: Institut de Recerca Pediàtrica-Hospital Sant Joan de Déu (IRP-HSJD), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Jimenez-Mallebrera
authors.affiliation: Institut de Recerca Pediàtrica-Hospital Sant Joan de Déu (IRP-HSJD), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain.
authors.forename: Andres
authors.initials: A
authors.lastname: Nascimento
authors.affiliation: Institut de Recerca Pediàtrica-Hospital Sant Joan de Déu (IRP-HSJD), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain.
authors.forename: Belén
authors.initials: B
authors.lastname: Pérez-Dueñas
authors.affiliation: Institut de Recerca Pediàtrica-Hospital Sant Joan de Déu (IRP-HSJD), Barcelona, Spain.
authors.forename: Carlos
authors.initials: C
authors.lastname: Ortez
authors.affiliation: Institut de Recerca Pediàtrica-Hospital Sant Joan de Déu (IRP-HSJD), Barcelona, Spain.
authors.forename: Federico
authors.initials: F
authors.lastname: Ramos
authors.affiliation: Institut de Recerca Pediàtrica-Hospital Sant Joan de Déu (IRP-HSJD), Barcelona, Spain.
authors.forename: Jaume
authors.initials: J
authors.lastname: Colomer
authors.affiliation: Institut de Recerca Pediàtrica-Hospital Sant Joan de Déu (IRP-HSJD), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain.
authors.forename: Mar
authors.initials: M
authors.lastname: O'Callaghan
authors.affiliation: Institut de Recerca Pediàtrica-Hospital Sant Joan de Déu (IRP-HSJD), Barcelona, Spain.
authors.forename: Mercè
authors.initials: M
authors.lastname: Pineda
authors.affiliation: Institut de Recerca Pediàtrica-Hospital Sant Joan de Déu (IRP-HSJD), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain.
authors.forename: Angels
authors.initials: A
authors.lastname: García-Cazorla
authors.affiliation: Genetics and Genomics of Neuromuscular Disorders Unit, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
authors.forename: Carmina
authors.initials: C
authors.lastname: Espinós
authors.affiliation: Servicio de Neuropediatría, Hospital Son Espasses, Palma de Mallorca, Spain.
authors.forename: Angels
authors.initials: A
authors.lastname: Ruiz
authors.affiliation: Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain.
authors.forename: Alfons
authors.initials: A
authors.lastname: Macaya
authors.affiliation: Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain.
authors.forename: Anna
authors.initials: A
authors.lastname: Marcé-Grau
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain; IBC-Secció d'Errors Congènits del Metabolisme, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Barcelona, Spain.
authors.forename: Judit
authors.initials: J
authors.lastname: Garcia-Villoria
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain; IBC-Secció d'Errors Congènits del Metabolisme, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Barcelona, Spain.
authors.forename: Angela
authors.initials: A
authors.lastname: Arias
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Spain.
authors.forename: Sonia
authors.initials: S
authors.lastname: Emperador
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Spain.
authors.forename: Eduardo
authors.initials: E
authors.lastname: Ruiz-Pesini
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Spain.
authors.forename: Ester
authors.initials: E
authors.lastname: Lopez-Gallardo
authors.affiliation: Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
authors.forename: Viruna
authors.initials: V
authors.lastname: Neergheen
authors.affiliation: Faculty of Medicine, Center for Neuroscience and Cell Biology, University of Coimbra, Laboratory of Biochemical Genetics, Portugal.
authors.forename: Marta
authors.initials: M
authors.lastname: Simões
authors.affiliation: Hospital Pediátrico de Coimbra, Centro Hospitalar e Universitário de Coimbra, Portugal.
authors.forename: Luisa
authors.initials: L
authors.lastname: Diogo
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain; Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
authors.forename: Alberto
authors.initials: A
authors.lastname: Blázquez
authors.affiliation: Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
authors.forename: Adrián
authors.initials: A
authors.lastname: González-Quintana
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain; Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
authors.forename: Aitor
authors.initials: A
authors.lastname: Delmiro
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain; Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
authors.forename: Cristina
authors.initials: C
authors.lastname: Domínguez-González
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain; Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
authors.forename: Joaquín
authors.initials: J
authors.lastname: Arenas
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain; Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
authors.forename: M Teresa
authors.initials: MT
authors.lastname: García-Silva
authors.affiliation: Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
authors.forename: Elena
authors.initials: E
authors.lastname: Martín
authors.affiliation: Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
authors.forename: Pilar
authors.initials: P
authors.lastname: Quijada
authors.affiliation: Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
authors.forename: Aurelio
authors.initials: A
authors.lastname: Hernández-Laín
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain; Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
authors.forename: María
authors.initials: M
authors.lastname: Morán
authors.affiliation: Genetics and Genomics of Neuromuscular Disorders Unit, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
authors.forename: Eloy
authors.initials: E
authors.lastname: Rivas Infante
authors.affiliation: Genetics and Genomics of Neuromuscular Disorders Unit, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
authors.forename: Rainiero
authors.initials: R
authors.lastname: Ávila Polo
authors.affiliation: Genetics and Genomics of Neuromuscular Disorders Unit, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
authors.forename: Carmen
authors.initials: C
authors.lastname: Paradas Lópe
authors.affiliation: Genetics and Genomics of Neuromuscular Disorders Unit, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
authors.forename: Juan
authors.initials: J
authors.lastname: Bautista Lorite
authors.affiliation: Genetics and Genomics of Neuromuscular Disorders Unit, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
authors.forename: Eva M
authors.initials: EM
authors.lastname: Martínez Fernández
authors.affiliation: Genetics and Genomics of Neuromuscular Disorders Unit, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
authors.forename: Ana B
authors.initials: AB
authors.lastname: Cortés
authors.affiliation: Genetics and Genomics of Neuromuscular Disorders Unit, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
authors.forename: Ana
authors.initials: A
authors.lastname: Sánchez-Cuesta
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain; Genetics and Genomics of Neuromuscular Disorders Unit, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
authors.forename: Maria V
authors.initials: MV
authors.lastname: Cascajo
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain; Genetics and Genomics of Neuromuscular Disorders Unit, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
authors.forename: María
authors.initials: M
authors.lastname: Alcázar
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain; Genetics and Genomics of Neuromuscular Disorders Unit, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
authors.forename: Gloria
authors.initials: G
authors.lastname: Brea-Calvo
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D028361:Mitochondrial Diseases / Q000473:pathology*; D009132:Muscles / Q000473:pathology; D010085:Oxidative Phosphorylation; D015995:Prevalence; D012867:Skin / Q000473:pathology; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000172:deficiency; D055815:Young Adult
chemical_list: D014451:Ubiquinone; C024989:coenzyme Q10
keywords: Coenzyme Q(10); Mitochondrial respiratory chain; Muscle biopsy; Oxidative phosphorylation disorders