Department of Ophthalmology, University Hospital, LMU Munich, Mathildenstraße 8, 80336 München, Germany.
College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, United States.
Vision Res. 2023 Jul;208:108232. doi: 10.1016/j.visres.2023.108232. Epub 2023 Apr 11.
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 Ca 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.
基因 CNGA1 和 CNGB1 分别编码视杆 CNG 通道的α和β亚基，该通道是一种配体门控阳离子通道，其活性受环鸟苷单磷酸（cGMP）的调控。这两个基因中的任何一个发生常染色体遗传突变都会导致进行性 rods-cone 视网膜病变，即色素性视网膜炎（RP）。视杆 CNG 通道表达在外节的质膜上，作为一种分子开关，将光介导的 cGMP 变化转化为电压和 Ca 信号。在这里，我们将首先回顾视杆 CNG 通道的分子特性和生理作用，然后讨论与 CNG 相关的 RP 的特征。最后，我们将总结基因治疗领域的最新活动，旨在为 CNG 相关的 RP 开发治疗方法。
