The aberrant expression or disruption of desmocollin2 in human diseases

Int J Biol Macromol. 2019 Jun 15:131:378-386. doi: 10.1016/j.ijbiomac.2019.03.041. Epub 2019 Mar 6.

Abstract

The desmosome is a member of intercellular junctions that named 'anchoring junction', which contributes to the integrity and homeostasis of tissue structure and function of multicellular living organisms. As an important component of the desmosome and the most widely distributed isoform of desmocollins (DSCs), desmocollin2 (DSC2) has been demonstrated to be essential for the unity of epithelial cells, and served as a vital regulator in signaling processes such as epithelial morphogenesis, differentiation, wound healing, cell apoptosis, migration, and proliferation. Recent studies suggested that the aberrant expression or disruption of DSC2 might lead to some disorders, including heart disorders, certain cancers, and some other human diseases. The distinctions in expression and regulation mechanisms of DSC2 in different human diseases provided a potential target for diagnosis and individualized treatment. Further research is required to certify the signaling capacity of DSC2 and to shed light on the down-stream consequences of the signaling for us to understand the new area of DSC2 biology and the development of certain diseases. This review summarizes the molecular structure and dynamics of desmosome and DSC2, the relationship between the disruption or aberrant expression of DSC2 and human diseases and related molecular mechanisms, as well as the possible prospects.

Keywords: Aberrant expression; Arrhythmogenic right ventricular cardiomyopathy; Cancer; Desmocollin2; Disruption.

Publication types

  • Review

MeSH terms

  • Animals
  • Calcium / metabolism
  • Desmocollins / chemistry
  • Desmocollins / genetics*
  • Desmocollins / metabolism
  • Desmosomes / genetics
  • Desmosomes / metabolism
  • Disease Susceptibility*
  • Gene Expression Regulation*
  • Humans
  • Mutation
  • Protein Transport
  • Signal Transduction
  • Structure-Activity Relationship

Substances

  • DSC2 protein, human
  • Desmocollins
  • Calcium