Copper-Induced Epigenetic Changes Shape the Clinical Phenotype in Wilson's Disease.
ATP7B
Copper
Wilson's disease
Wilson’s disease
clinical phenotypes
epigenetic
liver pathology
Journal
Current medicinal chemistry
ISSN: 1875-533X
Titre abrégé: Curr Med Chem
Pays: United Arab Emirates
ID NLM: 9440157
Informations de publication
Date de publication:
2021
2021
Historique:
received:
05
04
2020
revised:
16
06
2020
accepted:
19
06
2020
pubmed:
4
8
2020
medline:
16
6
2021
entrez:
4
8
2020
Statut:
ppublish
Résumé
Wilson's disease is a congenital disorder of copper metabolism whose pathogenesis remains, at least in part, unknown. Subjects carrying the same genotype may show completely different phenotypes, differing for the age at illness onset or for the hepatic, neurologic or psychiatric clinical presentation. The inability to find a unequivocal correlation between the type of mutation in the ATPase copper transporting beta (ATP7B) gene and the phenotypic manifestation, has encouraged many authors to look for epigenetic factors interacting with the genetic changes. Here, the evidences regarding the ability of copper overload to change the global DNA methylation status are discussed.
Identifiants
pubmed: 32744959
pii: CMC-EPUB-108755
doi: 10.2174/0929867327666200730214757
doi:
Substances chimiques
Copper
789U1901C5
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2707-2716Informations de copyright
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