Progress toward effective treatments for human photoreceptor degenerations.
Progress toward effective treatments for human photoreceptor degenerations.
复制标题
朝着有效治疗人类光感受器变性的进展。
DOI：
10.1016/j.gde.2009.03.006
复制
发表时间：
2009-06
影响因子：
4
通讯作者：
Stone EM
中科院分区：
文献类型：
--
作者：
Stone EM
几十个基因的突变已被证明会导致人类遗传性光感受器退化，而且很可能最终会发现几十个基因的突变。对这些基因的仔细研究提供了对人类光感受器疾病的细胞和分子机制的深入了解，并加速了许多不同类别治疗的发展，包括：营养补充，毒素避免，小分子和大分子药物，基因替代，细胞替代，甚至视网膜假体。视网膜是一个非常有利的系统，用于开发新的治疗神经退行性疾病，因为它的光学和物理的可及性，以及其高度有序的结构。随着遗传性视网膜疾病的几种治疗形式正在或接近临床试验，剩下的最大挑战之一是教育临床医生正确使用基因检测来识别最有可能从每种特定方式中受益的个体。
Mutations in several dozen genes have been shown to cause inherited photoreceptor degeneration in humans and it is likely that mutations in several dozen more will eventually be identified. Careful study of these genes has provided insight into the cellular and molecular mechanisms of human photoreceptor disease and has accelerated the development of a number of different classes of therapy including: nutritional supplementation, toxin avoidance, small- and large-molecule drugs, gene replacement, cell replacement, and even retinal prostheses. The retina is a very favorable system for the development of novel treatments for neurodegenerative disease because of its optical and physical accessibility as well as its highly ordered structure. With several forms of treatment for inherited retinal disease in or near clinical trial, one of the greatest remaining challenges is to educate clinicians in the appropriate use of genetic testing for identifying the individuals who will be most likely to benefit from each specific modality.