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

Author:

Fanni Daniela1ORCID,Gerosa Clara1ORCID,Nurchi Valeria Marina2ORCID,Cappai Rosita2ORCID,Mureddu Marta1ORCID,Eyken Peter Van3ORCID,Saba Luca4,Manchia Mirko5ORCID,Faa Gavino1ORCID

Affiliation:

1. Section of Pathology, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy

2. Department of Life and Environmental Sciences, University of Cagliari, Cagliari, Italy

3. Department of Pathology, UZ Genk Regional Hospital, Genk, Belgium

4. Department of Radiology, Azienda Ospedaliero Universitaria (A.O.U.), Cagliari, Italy

5. Section of Psychiatry, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy

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.

Publisher

Bentham Science Publishers Ltd.

Subject

Pharmacology,Molecular Medicine,Drug Discovery,Biochemistry,Organic Chemistry

Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. The Role of Copper Overload in Modulating Neuropsychiatric Symptoms;International Journal of Molecular Sciences;2024-06-12

2. Cardiac involvement in Wilson’s disease: a retrospective cohort study;European Journal of Gastroenterology & Hepatology;2022-08-23

3. Cuproptosis scoring system to predict the clinical outcome and immune response in bladder cancer;Frontiers in Immunology;2022-08-04

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