Ortega Joseph T, Gallagher Jacklyn M, McKee Andrew G, Tang Yidan, Carmena-Bargueňo Miguel, Azam Maria, Pashandi Zaiddodine, Golczak Marcin, Meiler Jens, Pérez-Sánchez Horacio, Schlebach Jonathan P, Jastrzebska Beata
Department of Pharmacology and Cleveland Center for Membrane and Structural Biology, School of Medicine, Case Western Reserve University, Cleveland, Ohio, United States of America.
The James Tarpo Jr. and Margaret Tarpo Department of Chemistry, Purdue University, West Lafayette, Indiana, United States of America.
PLoS Biol. 2025 Jan 14;23(1):e3002932. doi: 10.1371/journal.pbio.3002932. eCollection 2025 Jan.
Pathogenic mutations that cause rhodopsin misfolding lead to a spectrum of currently untreatable blinding diseases collectively termed retinitis pigmentosa. Small molecules to correct rhodopsin misfolding are therefore urgently needed. In this study, we utilized virtual screening to search for drug-like molecules that bind to the orthosteric site of rod opsin and improve its folding and trafficking. We identified and validated the biological effects of 2 non-retinoid compounds with favorable pharmacological properties that cross the blood-retina barrier. These compounds reversibly bind to unliganded rod opsin, each with a Kd comparable to 9-cis-retinal and improve opsin stability. By improving the internal protein structure network (PSN), these rod opsin ligands also enhanced the plasma membrane expression of total 36 of 123 tested clinical RP variants, including the most prevalent P23H variant. Importantly, these compounds protected retinas against light-induced degeneration in mice vulnerable to bright light injury and prolonged survival of photoreceptors in a retinitis pigmentosa mouse model for rod opsin misfolding.
导致视紫红质错误折叠的致病突变会引发一系列目前无法治疗的致盲疾病,统称为视网膜色素变性。因此,迫切需要能够纠正视紫红质错误折叠的小分子。在本研究中,我们利用虚拟筛选来寻找与视杆视蛋白的正构位点结合并改善其折叠和运输的类药物分子。我们鉴定并验证了2种具有良好药理特性且能穿过血视网膜屏障的非类视黄醇化合物的生物学效应。这些化合物与未结合配体的视杆视蛋白可逆结合,每种化合物的解离常数(Kd)与9-顺式视黄醛相当,并提高了视蛋白的稳定性。通过改善内部蛋白质结构网络(PSN),这些视杆视蛋白配体还增强了123个测试临床视网膜色素变性变体中36个变体的质膜表达,包括最常见的P23H变体。重要的是,这些化合物保护易受强光损伤的小鼠视网膜免受光诱导的退化,并延长了视杆视蛋白错误折叠的视网膜色素变性小鼠模型中光感受器的存活时间。