ATP7B与铜代谢相关疾病关系的研究进展  

Research Progress of Relationship between ATP7B and Copper Metabolism-Related Diseases

作　　者：强平 吴鹏[2] QIANG Ping;WU Peng(The First Clinical Medical College,Anhui University of Traditional Chinese Medicine,Hefei 230012,China;b.College of Integrative Medicine,Anhui University of Traditional Chinese Medicine,Hefei 230012,China)

机构地区：[1]安徽中医药大学第一临床医学院,合肥230012 [2]安徽中医药大学中西医结合学院,合肥230012

出　　处：《医学综述》2025年第6期641-646,共6页Medical Recapitulate

基　　金：国家自然科学基金(82074385);安徽省自然科学基金(1908085MH266);安徽中医药大学大学生创新创业训练计划省级项目(S202410369021)。

摘　　要：ATP7B结构高度保守,包括跨膜结构域、金属结合域及多个功能性区域,在细胞内铜转运和稳态调节中发挥关键作用。ATP7B的功能主要包括调控细胞内铜的转运、分布及铜依赖性酶的活性,并在铜超载条件下促进铜的排泄,防止细胞毒性。ATP7B与铜代谢相关疾病密切相关,其基因突变或表达异常不仅是导致肝豆状核变性、神经退行性疾病和某些肿瘤的重要因素,还与肝脏疾病、心血管疾病及肾脏疾病的发生发展相关。未来深入研究ATP7B的结构功能、与铜死亡机制的相关性及其在铜代谢异常相关疾病治疗中的应用潜力,可以为个性化的治疗提供新靶点。ATP7B is highly conserved in structure,including transmembrane domains,metal-binding domains,and multiple functional regions,which plays a key role in intracellular copper transport and homeostatic regulation.The functions of ATP7B mainly include regulating the transport and distribution of copper in cells and the activity of copper-dependent enzymes,and promoting copper excretion under copper overload conditions to prevent cytotoxicity.ATP7B is closely related to copper metabolism-related diseases,and its gene mutation or abnormal expression is not only an important factor leading to hepatolenticular degeneration,neurodegenerative diseases and some tumors,but also related to the occurrence and development of liver disease,cardiovascular disease and kidney diseases.In the future,in-depth research on the structure and function of ATP7B,its correlation with the mechanism of copper death and its application potential in the treatment of diseases related to abnormal copper metabolism can provide new targets for individualized treatment.

关 键 词：肝豆状核变性 ATP7B 铜转运 蛋白酶结构 铜代谢 

分 类 号：R589[医药卫生—内分泌]