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

International Journal of Molecular Sciences

Fei Wu⁴  Jing Wang²  Chunwen Pu³  Liang Qiao¹  Chunmeng Jiang² 

[1] Storr Liver Centre, Westmead Millennium Institute for Medical Research, Faculty of Medicine, the University of Sydney at Westmead Hospital, Westmead, NSW 2145, Australia;Department of Internal Medicine, the Second Hospital of Dalian Medical University, 467 Zhongshan Road, Shahekou District, Dalian 116023, Liaoning, China; E-Mail:;Department of Biobank, the Sixth People’s Hospital of Dalian, 269 Luganghuibai Road, Ganjingzi District, Dalian 116031, Liaoning, China; E-Mail:;Department of imaging, the Affiliated Zhongshan Hospital of Dalian University, 6 Jiefang Street, Zhongshan District, Dalian 116001, Liaoning, China; E-Mail:

关键词: Wilson’s disease;    ATP7B gene;    copper metabolism;    molecular mechanism;   

DOI  :  10.3390/ijms16036419

来源: mdpi

【 摘 要 】

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.

【 授权许可】

CC BY   
© 2015 by the authors; licensee MDPI, Basel, Switzerland.