CNG 通道相关性视网膜色素变性。
CNG channel-related retinitis pigmentosa.
机构信息
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.
出版信息
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。
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