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

Wilson39;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.

Automated summary

Wilson's disease is a congenital disorder of copper metabolism with unknown pathogenesis. Individuals with the same genotype may exhibit different clinical presentations, potentially due to the inability to correlate mutation types in the ATP7B gene with phenotypic manifestations.