Daniela Fanni*, Clara Gerosa, Valeria Marina Nurchi, Rosita Cappai, Marta Mureddu, Peter Van Eyken, Luca Saba, Mirko Manchia and Gavino Faa Pages 2707 - 2716 ( 10 )
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, epigenetic, Wilson's disease, ATP7B, liver pathology, clinical phenotypes, Wilson’s disease.
Section of Pathology, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Section of Pathology, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Department of Life and Environmental Sciences, University of Cagliari, Cagliari, Department of Life and Environmental Sciences, University of Cagliari, Cagliari, Section of Pathology, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Department of Pathology, UZ Genk Regional Hospital, Genk, Department of Radiology, Azienda Ospedaliero Universitaria (A.O.U.), Cagliari, Section of Psychiatry, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Section of Pathology, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari