[Expression difference of connexins in neural cells of Cx26 deficiency deafness]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2017 Oct 20;31(20):1579-1584. doi: 10.13201/j.issn.1001-1781.2017.20.009.
[Article in Chinese]

Abstract

Objective:Using induced pluripotent stem cell (iPSC) technology, neural cells from Cx26 deficiency deafness patients were derived, to investigate the influence of Cx26 deficiency on neural development and gene expression.Method:Fibroblasts were taken from profound deaf patients caused by Cx26 deficiency, and were induced to non-integration induced pluripotent stem cell lines, whose morphology, internal and external gene expression were characterized. Then these iPSC lines were differentiated into neural cells, whose expression change of pluripotent genes, neural markers and connexin genes were investigated.Result:Three iPSC lines with Cx26 deficiency were successfully established and differentiated into neural progenitor cells and neurons. The iPSC lines showed similar morphology, proliferation, internal and external gene expression with human embryonic stem cells. In iPSC-derived neurons, expression of Cx32 was up-regulated obviously, expression of Cx36 was up-regulated slightly, and expression of Cx26 showed no obvious change.Conclusion:TNeural differentiation of IPSC is not influenced by Cx26 deficiency, but expression of Cx32 and Cx36 are up-regulated, which may hint compensation from Cx32.

Keywords: connexin26; connexin32; disease model; non-integration induced pluripotent stem cell.

MeSH terms

  • Connexin 26
  • Connexins / genetics*
  • Connexins / metabolism
  • Deafness / genetics
  • Deafness / metabolism*
  • Gene Expression*
  • Humans
  • Neurons / metabolism
  • Pluripotent Stem Cells

Substances

  • Connexins
  • GJB2 protein, human
  • Connexin 26