Stuck Michael W, Conley Shannon M, Naash Muna I
Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
Department of Biomedical Engineering, University of Houston, Houston, TX 77204-5060, USA.
Prog Retin Eye Res. 2016 May;52:47-63. doi: 10.1016/j.preteyeres.2015.12.002. Epub 2016 Jan 8.
Peripherin 2 (PRPH2), also known as RDS (retinal degeneration slow) is a photoreceptor specific glycoprotein which is essential for normal photoreceptor health and vision. PRPH2/RDS is necessary for the proper formation of both rod and cone photoreceptor outer segments, the organelle specialized for visual transduction. When PRPH2/RDS is defective or absent, outer segments become disorganized or fail to form entirely and the photoreceptors subsequently degenerate. Multiple PRPH2/RDS disease-causing mutations have been found in humans, and they are associated with various blinding diseases of the retina such as macular degeneration and retinitis pigmentosa, the vast majority of which are inherited dominantly, though recessive LCA and digenic RP have also been associated with RDS mutations. Since its initial discovery, the scientific community has dedicated a considerable amount of effort to understanding the molecular function and disease mechanisms of PRPH2/RDS. This work has led to an understanding of how the PRPH2/RDS molecule assembles into complexes and functions as a necessary part of the machinery that forms new outer segment discs, as well as leading to fundamental discoveries about the mechanisms that underlie OS biogenesis. Here we discuss PRPH2/RDS-associated research and how experimental results have driven the understanding of the PRPH2/RDS protein and its role in human disease.
外周蛋白2(PRPH2),也称为视网膜变性慢(RDS)蛋白,是一种光感受器特异性糖蛋白,对正常的光感受器健康和视力至关重要。PRPH2/RDS蛋白对于视杆和视锥光感受器外节(专门用于视觉转导的细胞器)的正常形成是必需的。当PRPH2/RDS蛋白存在缺陷或缺失时,外节会变得紊乱或完全无法形成,随后光感受器会退化。在人类中发现了多种导致PRPH2/RDS疾病的突变,它们与各种视网膜致盲疾病有关,如黄斑变性和色素性视网膜炎,其中绝大多数是显性遗传的,不过隐性莱伯先天性黑蒙症(LCA)和双基因视网膜色素变性(RP)也与RDS突变有关。自首次发现以来,科学界投入了大量精力来了解PRPH2/RDS的分子功能和疾病机制。这项工作使人们了解了PRPH2/RDS分子如何组装成复合物,并作为形成新的外节盘的机制中不可或缺的一部分发挥作用,并促成了关于外节生物发生基础机制的重要发现。在这里,我们讨论与PRPH2/RDS相关的研究,以及实验结果如何推动了对PRPH2/RDS蛋白及其在人类疾病中作用的理解。