[Correlation between Connexin 43 Mutation and Skin Diseases]

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2022 Dec;44(6):1095-1101. doi: 10.3881/j.issn.1000-503X.14404.
[Article in Chinese]

Abstract

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.

Keywords: connexin 43; gene mutation; hemichannel activity; pathogenic mechanism; skin disease.

Publication types

  • Review
  • English Abstract

MeSH terms

  • Connexin 43* / genetics
  • Connexin 43* / metabolism
  • Connexins / genetics
  • Humans
  • Mutation
  • Quality of Life
  • Skin Diseases* / genetics

Substances

  • Connexin 43
  • Connexins