Wilson’s Disease: A Comprehensive Review of theMolecular Mechanisms

International Journal of Molecular Sciences

Chunwen Pu¹  Jing Wang²  Chunmeng Jiang²  Fei Wu³  Liang Qiao⁴ 

[1] Department of Biobank, the Sixth People's Hospital of Dalian, 269 Luganghuibai Road,Ganjingzi District, Dalian 116031, Liaoning, China;Department of Internal Medicine, the Second Hospital of Dalian Medical University,467 Zhongshan Road, Shahekou District, Dalian 116023, Liaoning, China;Department of imaging, the Affiliated Zhongshan Hospital of Dalian University,6 Jiefang Street, Zhongshan District, Dalian 116001, 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;

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

DOI  :  10.3390/ijms16036419

来源: DOAJ

【 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 asthe 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 inP-type adenosine triphosphatase (ATP7B), the gene encoding the copper transportingP-type ATPase, is responsible for hepatic copper accumulation. Deposited copper in theliver produces toxic effects via modulating several molecular pathways. WD can be alethal disease if left untreated. A better understanding of the molecular mechanismscausing the aberrant copper deposition and organ damage is the key to developing effective management approaches.

【 授权许可】

Unknown