Drug discovery for hereditary deafness targeting cochlear gap junction

• Kamiya Kazusaku

  Department of Otorhinolaryngology, Juntendo University Faculty of Medicine

Bibliographic Information

Other Title

• 蝸牛ギャップ結合を標的とした遺伝性難聴の創薬と治療法の開発

Abstract

Mutation of the Gap Junction Beta 2 gene (GJB2) is the most frequent cause of hereditary deafness worldwide. GJB2 encodes connexin (Cx) 26, a component in cochlear gap junction. We have demonstrated that the drastic disruption of gap junction plaque (GJP) macromolecular complex composed of Cx26 and Cx30 are critical pathogenesis and it could be a target for drug discovery. By differentiation of iPS cells, we generated the Cx26-expressiong cells with large gap junction plaque as cochlear cells. Furthermore, these cells from CX26-deficient mice recapitulated the drastic disruption of GJPs observed in the cochlea. These in vitro models should be useful for establishing drug screening that target GJB2-related hearing loss.

Journal

• Otology Japan

  Otology Japan 28 (2), 79-81, 2018

  Japan Otological Society

Keywords

• hereditary deafness
• iPS cell
• gap junction
• GJB2
• Connexin26

Details

• CRID: 1390001288124545536
• NII Article ID: 130007606364
• DOI: 10.11289/otoljpn.28.79
• ISSN: 18841457
• ISSN: 09172025
• Web Site: https://search.jamas.or.jp/link/ui/2018283753
• Text Lang: ja
• Data Source:
  • JaLC
  • CiNii Articles
  • KAKEN
• Abstract License Flag: Disallowed