Secondary coenzyme Q(10) deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders
Por:
D. YUBERO, R. MONTERO, M. MARTIN, J. MONTOYA, A. RIBES, M. GRAZINA, E. TREVISSON, J. RODRIGUEZ-AGUILERA, L. HARGREAVES, L. SALVIATI, P. NAVAS, R. ARTUCH, C. JIMENEZ-MALLEBRERA, A. NASCIMENTO, B. PEREZ-DUENAS, C. ORTEZ, F. RAMOS, J. COLOMER, M. O'CALLAGHAN, M. PINEDA, A. GARCIA-CAZORLA, Carmen Espinós, A. RUIZ, A. MACAYA, A. MARCE-GRAU, J. GARCIA-VILLORIA, A. ARIAS, S. EMPERADOR, E. RUIZ-PESINI, E. LOPEZ-GALLARDO, V. NEERGHEEN, M. SIMOES, L. DIOGO, A. BLAZQUEZ, A. GONZALEZ-QUINTANA, A. DELMIRO, C. DOMINGUEZ-GONZALEZ, J. ARENAS, M. GARCIA-SILVA, E. MARTIN, P. QUIJADA, A. HERNANDEZ-LAIN, M. MORAN, E. INFANTE, R. POLO, C. LOPE, J. LORITE, E. FERNANDEZ, A. CORTES, A. SANCHEZ-CUESTA, M. CASCAJO, M. ALCAZAR, G. BREA-CALVO and CoQ Deficiency Study Grp Cristina
Publicada:
1 sep 2016
Resumen:
We evaluated the coenzyme Q(10) (CoQ) levels inpatients 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 CoQdeficiency is a common finding in OXPHOS and non-OXPHOS disorders. We hypothesize that cases of CoQdeficiency 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. (C) 2016 Elsevier B.V. and Mitochondria Research Society. All rights reserved.
Filiaciones:
D. YUBERO:
IRP HSJD, Barcelona, Spain
R. MONTERO:
IRP HSJD, Barcelona, Spain
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Inst Salud Carlos III, Valencia, Spain
M. MARTIN:
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Inst Salud Carlos III, Valencia, Spain
Hosp 12 Octubre I 12, Inst Invest, Mitochondrial & Neuromuscular Disorders Grp, Madrid, Spain
J. MONTOYA:
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Inst Salud Carlos III, Valencia, Spain
Univ Zaragoza, Dept Bioquim Biol Mol & Celular, E-50009 Zaragoza, Spain
A. RIBES:
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Inst Salud Carlos III, Valencia, Spain
Hosp Clin Barcelona, IBC Seccio Errors Congenits Metab, Servei Bioquim & Genet Mol, Barcelona, Spain
M. GRAZINA:
Univ Coimbra, Lab Biochem Genet, Ctr Neurosci & Cell Biol, Fac Med, P-3000 Coimbra, Portugal
J. RODRIGUEZ-AGUILERA:
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Inst Salud Carlos III, Valencia, Spain
Univ Pablo Olavide, Hosp Univ Virgen Rocio, CSIC, Ctr Andaluz Biol Desarrollo, Seville, Spain
L. HARGREAVES:
Natl Hosp Neurol & Neurosurg, Neurometab Unit, Queen Sq, London, England
L. SALVIATI:
IRP Citta Speranza, Dept Woman & Child Hlth, Clin Genet Unit, Padua, Italy
P. NAVAS:
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Inst Salud Carlos III, Valencia, Spain
Univ Pablo Olavide, Hosp Univ Virgen Rocio, CSIC, Ctr Andaluz Biol Desarrollo, Seville, Spain
R. ARTUCH:
IRP HSJD, Barcelona, Spain
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Inst Salud Carlos III, Valencia, Spain
C. JIMENEZ-MALLEBRERA:
IRP HSJD, Barcelona, Spain
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Inst Salud Carlos III, Valencia, Spain
A. NASCIMENTO:
IRP HSJD, Barcelona, Spain
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Inst Salud Carlos III, Valencia, Spain
B. PEREZ-DUENAS:
IRP HSJD, Barcelona, Spain
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Inst Salud Carlos III, Valencia, Spain
C. ORTEZ:
IRP HSJD, Barcelona, Spain
F. RAMOS:
IRP HSJD, Barcelona, Spain
J. COLOMER:
IRP HSJD, Barcelona, Spain
M. O'CALLAGHAN:
IRP HSJD, Barcelona, Spain
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Inst Salud Carlos III, Valencia, Spain
M. PINEDA:
IRP HSJD, Barcelona, Spain
A. GARCIA-CAZORLA:
IRP HSJD, Barcelona, Spain
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Inst Salud Carlos III, Valencia, Spain
Hosp Clin Barcelona, IBC Seccio Errors Congenits Metab, Servei Bioquim & Genet Mol, Barcelona, Spain
:
CIPF, Genet & Genom Neuromuscular Disorders Unit, Valencia, Spain
A. RUIZ:
Hosp Son Espasses, Serv Neuropediat, Palma De Mallorca, Spain
A. MACAYA:
Vall Hebron Res Inst, Pediat Neurol Res Grp, Barcelona, Spain
A. MARCE-GRAU:
Vall Hebron Res Inst, Pediat Neurol Res Grp, Barcelona, Spain
J. GARCIA-VILLORIA:
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Inst Salud Carlos III, Valencia, Spain
A. ARIAS:
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Inst Salud Carlos III, Valencia, Spain
S. EMPERADOR:
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Inst Salud Carlos III, Valencia, Spain
Univ Zaragoza, Dept Bioquim Biol Mol & Celular, E-50009 Zaragoza, Spain
E. RUIZ-PESINI:
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Inst Salud Carlos III, Valencia, Spain
Univ Zaragoza, Dept Bioquim Biol Mol & Celular, E-50009 Zaragoza, Spain
E. LOPEZ-GALLARDO:
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Inst Salud Carlos III, Valencia, Spain
V. NEERGHEEN:
Natl Hosp Neurol & Neurosurg, Neurometab Unit, Queen Sq, London, England
L. DIOGO:
Hosp Pediat Coimbra, Ctr Hosp, Coimbra, Portugal
Univ Coimbra, P-3000 Coimbra, Portugal
A. BLAZQUEZ:
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Inst Salud Carlos III, Valencia, Spain
Univ Pablo Olavide, Hosp Univ Virgen Rocio, CSIC, Ctr Andaluz Biol Desarrollo, Seville, Spain
A. GONZALEZ-QUINTANA:
Univ Pablo Olavide, Hosp Univ Virgen Rocio, CSIC, Ctr Andaluz Biol Desarrollo, Seville, Spain
A. DELMIRO:
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Inst Salud Carlos III, Valencia, Spain
Univ Pablo Olavide, Hosp Univ Virgen Rocio, CSIC, Ctr Andaluz Biol Desarrollo, Seville, Spain
C. DOMINGUEZ-GONZALEZ:
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Inst Salud Carlos III, Valencia, Spain
Univ Pablo Olavide, Hosp Univ Virgen Rocio, CSIC, Ctr Andaluz Biol Desarrollo, Seville, Spain
J. ARENAS:
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Inst Salud Carlos III, Valencia, Spain
Univ Pablo Olavide, Hosp Univ Virgen Rocio, CSIC, Ctr Andaluz Biol Desarrollo, Seville, Spain
M. GARCIA-SILVA:
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Inst Salud Carlos III, Valencia, Spain
Univ Pablo Olavide, Hosp Univ Virgen Rocio, CSIC, Ctr Andaluz Biol Desarrollo, Seville, Spain
E. MARTIN:
Univ Pablo Olavide, Hosp Univ Virgen Rocio, CSIC, Ctr Andaluz Biol Desarrollo, Seville, Spain
P. QUIJADA:
Univ Pablo Olavide, Hosp Univ Virgen Rocio, CSIC, Ctr Andaluz Biol Desarrollo, Seville, Spain
A. HERNANDEZ-LAIN:
Univ Pablo Olavide, Hosp Univ Virgen Rocio, CSIC, Ctr Andaluz Biol Desarrollo, Seville, Spain
M. MORAN:
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Inst Salud Carlos III, Valencia, Spain
E. INFANTE:
CIPF, Genet & Genom Neuromuscular Disorders Unit, Valencia, Spain
R. POLO:
CIPF, Genet & Genom Neuromuscular Disorders Unit, Valencia, Spain
C. LOPE:
CIPF, Genet & Genom Neuromuscular Disorders Unit, Valencia, Spain
J. LORITE:
CIPF, Genet & Genom Neuromuscular Disorders Unit, Valencia, Spain
E. FERNANDEZ:
CIPF, Genet & Genom Neuromuscular Disorders Unit, Valencia, Spain
A. CORTES:
CIPF, Genet & Genom Neuromuscular Disorders Unit, Valencia, Spain
A. SANCHEZ-CUESTA:
CIPF, Genet & Genom Neuromuscular Disorders Unit, Valencia, Spain
M. CASCAJO:
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Inst Salud Carlos III, Valencia, Spain
CIPF, Genet & Genom Neuromuscular Disorders Unit, Valencia, Spain
M. ALCAZAR:
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Inst Salud Carlos III, Valencia, Spain
CIPF, Genet & Genom Neuromuscular Disorders Unit, Valencia, Spain
G. BREA-CALVO:
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Inst Salud Carlos III, Valencia, Spain
CIPF, Genet & Genom Neuromuscular Disorders Unit, Valencia, Spain
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