Molecular diagnosis of coenzyme Q(10) deficiency
Por:
D. YUBERO, R. MONTERO, J. ARMSTRONG, Carmen Espinós, F. PALAU, C. SANTOS-OCANA, L. SALVIATI, P. NAVAS and R. ARTUCH
Publicada:
1 ago 2015
Resumen:
Coenzyme Q(10) (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.
Filiaciones:
D. YUBERO:
Hosp St Joan de Deu, Dept Genet & Mol Med, Barcelona, Spain
Hosp St Joan de Deu, Pediat Inst Rare Dis IPER, Barcelona, Spain
CIBER Enfermedades Raras CIBERER, Barcelona, Spain
R. MONTERO:
Hosp St Joan de Deu, Dept Genet & Mol Med, Barcelona, Spain
Hosp St Joan de Deu, Pediat Inst Rare Dis IPER, Barcelona, Spain
CIBER Enfermedades Raras CIBERER, Barcelona, Spain
J. ARMSTRONG:
Hosp St Joan de Deu, Dept Genet & Mol Med, Barcelona, Spain
Hosp St Joan de Deu, Pediat Inst Rare Dis IPER, Barcelona, Spain
CIBER Enfermedades Raras CIBERER, Barcelona, Spain
:
CIPF, Unit Genet & Genom Neuromuscular Disorders, Valencia, Spain
CIBERER, Valencia, Spain
:
Hosp St Joan de Deu, Dept Genet & Mol Med, Barcelona, Spain
Hosp St Joan de Deu, Pediat Inst Rare Dis IPER, Barcelona, Spain
CIBER Enfermedades Raras CIBERER, Barcelona, Spain
C. SANTOS-OCANA:
Univ Pablo de Olavide, Ctr Andaluz Biol Desarrollo, Seville, Spain
CIBERER, Seville, Spain
L. SALVIATI:
Univ Padua, Dept Pediat, Clin Genet Unit, Padua, Italy
P. NAVAS:
Univ Pablo de Olavide, Ctr Andaluz Biol Desarrollo, Seville, Spain
CIBERER, Seville, Spain
R. ARTUCH:
Hosp St Joan de Deu, Dept Genet & Mol Med, Barcelona, Spain
Hosp St Joan de Deu, Pediat Inst Rare Dis IPER, Barcelona, Spain
CIBER Enfermedades Raras CIBERER, Barcelona, Spain
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