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.

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

Fanni, Daniela
Primo
Writing – Original Draft Preparation
;
Gerosa, Clara
Secondo
Writing – Original Draft Preparation
;
Nurchi, Valeria Marina
Writing – Review & Editing
;
Cappai, Rosita
Writing – Review & Editing
;
Mureddu, Marta
Writing – Review & Editing
;
Luca, Saba
Writing – Review & Editing
;
Manchia, Mirko
Penultimo
Writing – Review & Editing
;
Faa, Gavino
Ultimo
Writing – Original Draft Preparation
2021

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.
ATP7B; Copper; Wilson's disease; Epigenetic; Liver; Pathology
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11584/296774
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