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
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

2707-2716

Informations de copyright

Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.

Auteurs

Daniela Fanni (D)

Section of Pathology, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.

Clara Gerosa (C)

Section of Pathology, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.

Valeria Marina Nurchi (VM)

Department of Life and Environmental Sciences, University of Cagliari, Cagliari, Italy.

Rosita Cappai (R)

Department of Life and Environmental Sciences, University of Cagliari, Cagliari, Italy.

Marta Mureddu (M)

Section of Pathology, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.

Peter Van Eyken (PV)

Department of Pathology, UZ Genk Regional Hospital, Genk, Belgium.

Luca Saba (L)

Department of Radiology, Azienda Ospedaliero Universitaria (A.O.U.), Cagliari, Italy.

Mirko Manchia (M)

Section of Psychiatry, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.

Gavino Faa (G)

Section of Pathology, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female
Humans United States Aged Cross-Sectional Studies Medicare Part C
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH