Stem cells as tools for studying the genetics of inherited retinal degenerations.
Stem cells as tools for studying the genetics of inherited retinal degenerations.
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干细胞作为研究遗传性视网膜变性遗传学的工具。
DOI：
10.1101/cshperspect.a017160
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发表时间：
2014
影响因子：
5.4
通讯作者：
Tucker,BuddA
中科院分区：
文献类型：
--
作者：
Wiley,LukeA;Burnight,ErinR;Mullins,RobertF;Stone,EdwinM;Tucker,BuddA
为遗传性疾病提供早期临床干预的能力在很大程度上取决于对患者致病突变和由此产生的病理生理机制的了解(S)。如果不知道患者的致病基因，以及基因突变如何改变受影响细胞的健康和功能，就很难开发和提供针对患者的分子或小分子疗法。许多人认为，干细胞生物学领域掌握着疾病、患者和细胞特异性疗法未来发展的关键。以眼睛为例，它容易患上一种非常常见的晚发性退行性疾病，即年龄相关性黄斑变性，基于干细胞的疗法可以提高全球数百万患者的生活质量。此外，自体、患者特异性诱导的多能干细胞可能是治疗罕见的孟德尔视网膜退行性疾病的可行来源，例如视网膜色素变性、Stargardt病和Best病，仅举几例。
The ability to provide early clinical intervention for inherited disorders is heavily dependent on knowledge of a patient’s disease-causing mutations and the resultant pathophysiologic mechanism(s). Without knowing a patient’s disease-causing gene, and how gene mutations alter the health and functionality of affected cells, it would be difficult to develop and deliver patient-specific molecular or small molecule therapies. Many believe that the field of stem cell biology holds the keys to the future development of disease-, patient-, and cell-specific therapies. In the case of the eye, which is susceptible to an extremely common late-onset degenerative disease known as age-related macular degeneration, stem cell-based therapies could increase the quality of life for millions of patients worldwide. Furthermore, autologous, patient-specific induced pluripotent stem cells could be a viable source to treat rare Mendelian retinal degenerative diseases such as retinitis pigmentosa, Stargardt disease, and Best disease, to name a few.