Portal de investigación
Molecular diagnosis of coenzyme Q(10) deficiency
Autores de CIPF
Participantes ajenos a CIPF
- Yubero, D
- Montero, R
- Armstrong, J
- Santos-Ocana, C
- Salviati, L
- Navas, P
- Artuch, R
Grupos de Investigación
Abstract
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.
Datos de la publicación
- ISSN/ISSNe:
- 1473-7159, 1744-8352
- Tipo:
- Article
- Páginas:
- 1049-1059
- PubMed:
- 26144946
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS TAYLOR & FRANCIS AS
Citas Recibidas en Web of Science: 15
Documentos
- No hay documentos
Filiaciones
Keywords
- coenzyme Q10 deficiency syndromes; functional studies in yeasts; mitochondrial diseases; muscle biopsy; next-generation sequencing
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