Department of Ophthalmology, OUHSC, Oklahoma City, OK 73104, USA.
Adv Exp Med Biol. 2012;723:553-8. doi: 10.1007/978-1-4614-0631-0_70.
Retinal degenerations (RD) are a complex heterogeneous group of diseases in which retinal photoreceptors and the supporting retinal pigment epithelial cells die irreversibly, causing visual loss for millions of people. Mutations on more than 150 genes have been discovered for RD and there are many forms that possess complex etiology involving more than one gene and environmental effect. For years many have searched for some common intracellular second messenger for these many forms of cell death which could be targeted for therapy. Ceramide is a novel cellular second messenger which signals for apoptosis. Several lines of evidence suggest an integral role of ceramide in photoreceptor apoptosis and cell death. Understanding their role in the pathogenic pathways of retinal degenerative diseases is important for development of targeted therapeutics.
视网膜变性(RD)是一组复杂的异质性疾病,其中视网膜光感受器和支持的视网膜色素上皮细胞不可逆转地死亡,导致数百万人视力丧失。已经发现超过 150 种基因的突变与 RD 有关,并且有许多形式的病因涉及多个基因和环境影响。多年来,许多人一直在寻找这些多种形式的细胞死亡的一些常见的细胞内第二信使,以便可以针对该信使进行治疗。神经酰胺是一种新型的细胞内第二信使,可发出细胞凋亡的信号。有几条证据表明神经酰胺在光感受器细胞凋亡和细胞死亡中起着重要作用。了解它们在视网膜退行性疾病的发病途径中的作用对于开发靶向治疗方法非常重要。