Progress in molecular pathological mechanisms of Wilson disease based on copper metabolism abnormality
10.3969/j.issn.1000-4718.2024.09.022
- VernacularTitle:基于铜代谢的肝豆状核变性相关分子机制的研究进展
- Author:
Jinxian LI
1
;
Dingsheng WEN
;
Xiong LI
Author Information
1. 广东药科大学附属第一医院临床药学重点专科,广东 广州 510000
- Keywords:
hepatolenticular degeneration;
copper metabolism;
ATP7B gene
- From:
Chinese Journal of Pathophysiology
2024;40(9):1751-1757
- CountryChina
- Language:Chinese
-
Abstract:
Hepatolenticular degeneration,also known as Wilson disease(WD),is a kind of autosomal reces-sive hereditary disease with the disorder of copper metabolism,which is clinically manifested as liver damage,neuropsy-chiatric disorder.The molecular pathological mechanism has been not fully revealed.It is commonly known that excessive copper accumulation inside hepatotic cells is the main reason of WD.However,the emerging roles of cuproptosis and oth-er trace elements such as zinc,iron and lead in WD have recently attracted attention and become the research hotspots.This present review summarized the pathological factors,molecular mechanisms of liver damage and neuropsychiatric dis-order of WD,which will help identify novel diagnostic biomarkers,and provide new therapeutics for WD.
