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

Fanni, Daniela

First

Writing - Original Draft Preparation

;Gerosa, Clara

Second

Writing - Original Draft Preparation

;Nurchi, Valeria Marina

Writing - Review & Editing

;Cappai, Rosita

Writing - Review & Editing

;Mureddu, Marta

Writing - Review & Editing

;Eyken, Peter Van

Writing - Review & Editing

;Luca, Saba

Writing - Review & Editing

;Manchia, Mirko

Penultimate

Writing - Review & Editing

;Faa, Gavino

Last

Writing - Original Draft Preparation

2021-01-01

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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.