Wilson病分子机制研究进展

Wilson病是一种铜代谢缺陷病,其发病与铜转运相关的P型ATP酶(ATP7B蛋白)及X连锁凋亡抑制蛋白(XIAP)功能改变密切相关。ATP7B蛋白及XIAP通过一系列相互独立的分子生物学机制作用于铜转运。ATP7B蛋白的突变和XIAP的异位表达会打乱铜平衡,导致铜过量并沉积于肝、脑和眼角膜,引起相应的器官脏器损伤。本文就ATP7B蛋白和XIAP及其在Wilson病发生、发展中的分子机制予以综述。

Molecular Pathogenesis of Wilson Disease

Wilson disease is a copper metabolic disease,which has been demonstrated to be closely associated with the functional change of P-type ATPase7B and X-linked inhibitor of apoptosis protein(XIAP).ATP7B protein and XIAP act on copper transportation through a series of independent molecular biological mechanism.The mutation of ATP7B protein and abnormal expression of XIAP can interrupt the balance of copper,and result in excessive deposition of copper in liver,brain,cornea and injury of corresponding organs.Thi...