间隙连接蛋白43突变与皮肤疾病相关性研究

间隙连接蛋白(Cx)在保证细胞间物质信息传递及维持皮肤屏障稳态方面发挥着重要作用,其基因突变,甚至表达水平异常均会引起多种疾病,严重影响患者生活质量。在编码人类Cx家族的21个基因中,与Cx基因突变相关的临床伴随疾病至少有14种。其中,Cx43分布最广,不仅在大多数器官组织中均有报道,也是伤口愈合、皮肤角质化,以及皮肤肿瘤发展等重要生理病理过程中的关键调控节点。本文总结了近年来Cx43基因(GJA1)在皮肤屏障中的作用、GJA1基因突变相关皮肤疾病及其潜在致病机制这几个快速发展领域中的研究成果,以期为Cx43临床伴发疾病防治及相关研究提供参考。

Correlation between Connexin 43 Mutation and Skin Diseases

Connexin(Cx) plays an important role in ensuring the material exchange and information transmission between cells and maintaining the stability of the skin barrier.The gene mutations and even the abnormal expression levels of Cx can cause a variety of diseases,which will seriously affect the quality of life of patients.The human body carries 21 genes encoding connexins,the mutations of which are associated with at least 14 clinical concomitant diseases.The existence of Cx43 with wide distribution has been reported in most organs and tissues.Moreover,Cx43 is a key regulatory node in important physiological and pathological processes such as wound healing,skin keratinization,and skin tumor development.This review focuses on the recent research achievements of the role of Cx43(GJA1) gene in the skin barrier,the skin diseases associated with GJA1 gene mutations,and the potential pathogenic mechanisms.It is expected to provide reference for the prevention and treatment of Cx43 clinical complications and the related research.