CNG channel-related retinitis pigmentosa

Vision Res. 2023 Jul:208:108232. doi: 10.1016/j.visres.2023.108232. Epub 2023 Apr 11.

Abstract

The genes CNGA1 and CNGB1 encode the alpha and beta subunits of the rod CNG channel, a ligand-gated cation channel whose activity is controlled by cyclic guanosine monophosphate (cGMP). Autosomal inherited mutations in either of the genes lead to a progressive rod-cone retinopathy known as retinitis pigmentosa (RP). The rod CNG channel is expressed in the plasma membrane of the outer segment and functions as a molecular switch that converts light-mediated changes in cGMP into a voltage and Ca2+ signal. Here, we will first review the molecular properties and physiological role of the rod CNG channel and then discuss the characteristics of CNG-related RP. Finally, we will summarize recent activities in the field of gene therapy aimed at developing therapies for CNG-related RP.

Keywords: CNG; Cyclic nucleotide-gated channel; Gene therapy; Inherited retinal disease; RP; Retinitis pigmentosa; Rod photoreceptor; Rod-cone dystrophy; Vision; cGMP.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cyclic Nucleotide-Gated Cation Channels* / genetics
  • Cyclic Nucleotide-Gated Cation Channels* / metabolism
  • Humans
  • Photoreceptor Cells, Vertebrate
  • Retinitis Pigmentosa* / genetics

Substances

  • Cyclic Nucleotide-Gated Cation Channels
  • CNGB1 protein, human