Next Article in Journal / Special Issue
Primary Biliary Cirrhosis Is a Generalized Autoimmune Epithelitis
Previous Article in Journal
Exploring the Nature of Silicon-Noble Gas Bonds in H3SiNgNSi and HSiNgNSi Compounds (Ng = Xe, Rn)
Previous Article in Special Issue
Potential Epigenetic Mechanism in Non-Alcoholic Fatty Liver Disease
Article Menu
Issue 3 (March) cover image

Export Article

Open AccessReview
Int. J. Mol. Sci. 2015, 16(3), 6419-6431;

Wilson’s Disease: A Comprehensive Review of the Molecular Mechanisms

4,* and 2,*
Department of imaging, the Affiliated Zhongshan Hospital of Dalian University, 6 Jiefang Street, Zhongshan District, Dalian 116001, Liaoning, China
Department of Internal Medicine, the Second Hospital of Dalian Medical University, 467 Zhongshan Road, Shahekou District, Dalian 116023, Liaoning, China
Department of Biobank, the Sixth People's Hospital of Dalian, 269 Luganghuibai Road, Ganjingzi District, Dalian 116031, Liaoning, China
Storr Liver Centre, Westmead Millennium Institute for Medical Research, Faculty of Medicine, the University of Sydney at Westmead Hospital, Westmead, NSW 2145, Australia
These authors contributed equally to this work.
Authors to whom correspondence should be addressed.
Academic Editor: Johannes Haybaeck
Received: 7 December 2014 / Revised: 3 March 2015 / Accepted: 3 March 2015 / Published: 20 March 2015
(This article belongs to the Collection Molecular Mechanisms of Human Liver Diseases)
Full-Text   |   PDF [1489 KB, uploaded 20 March 2015]   |  


Wilson’s disease (WD), also known as hepatolenticular degeneration, is an autosomal recessive inherited disorder resulting from abnormal copper metabolism. Reduced copper excretion causes an excessive deposition of the copper in many organs such as the liver, central nervous system (CNS), cornea, kidney, joints, and cardiac muscle where the physiological functions of the affected organs are impaired. The underlying molecular mechanisms for WD have been extensively studied. It is now believed that a defect in P-type adenosine triphosphatase (ATP7B), the gene encoding the copper transporting P-type ATPase, is responsible for hepatic copper accumulation. Deposited copper in the liver produces toxic effects via modulating several molecular pathways. WD can be a lethal disease if left untreated. A better understanding of the molecular mechanisms causing the aberrant copper deposition and organ damage is the key to developing effective management approaches. View Full-Text
Keywords: Wilson’s disease; ATP7B gene; copper metabolism; molecular mechanism Wilson’s disease; ATP7B gene; copper metabolism; molecular mechanism

Figure 1

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

Share & Cite This Article

MDPI and ACS Style

Wu, F.; Wang, J.; Pu, C.; Qiao, L.; Jiang, C. Wilson’s Disease: A Comprehensive Review of the Molecular Mechanisms. Int. J. Mol. Sci. 2015, 16, 6419-6431.

Show more citation formats Show less citations formats

Related Articles

Article Metrics

Article Access Statistics



[Return to top]
Int. J. Mol. Sci. EISSN 1422-0067 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top