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Current Medicinal Chemistry

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Review Article

Copper-Induced Epigenetic Changes Shape the Clinical Phenotype in Wilson’s Disease

Author(s): Daniela Fanni*, Clara Gerosa, Valeria Marina Nurchi, Rosita Cappai, Marta Mureddu, Peter Van Eyken, Luca Saba, Mirko Manchia and Gavino Faa

Volume 28, Issue 14, 2021

Published on: 30 July, 2020

Page: [2707 - 2716] Pages: 10

DOI: 10.2174/0929867327666200730214757

Price: $65

Abstract

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.

Keywords: Copper, epigenetic, Wilson's disease, ATP7B, liver pathology, clinical phenotypes, Wilson’s disease.

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