BEST1: the Best Target for Gene and Cell Therapies
BEST1: the Best Target for Gene and Cell Therapies
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DOI：
10.1038/mt.2015.177
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发表时间：
2015-12-01
影响因子：
12.4
通讯作者：
Tsang, Stephen H.
中科院分区：
文献类型：
--
作者：
Yang, Tingting;Justus, Sally;Tsang, Stephen H.
作为一种视网膜色素上皮（RPE）疾病，性视网膜病变最近在临床前模型中被证明是可接受基因和细胞治疗的。RPE疾病和相关视网膜变性表现出显著的遗传异质性，不同的突变可导致相似的疾病表型。几种RPE疾病最近成为人类基因治疗的目标。2011年，细胞疗法取得了新的进展，美国食品和药物管理局批准了使用胚胎干细胞治疗RPE疾病（即老年性黄斑变性）的临床试验。最近关于诱导多能干细胞(iPS)-RPE生成的研究表明，在体外建立患者特异性疾病模型具有很大的潜力，最终可能实现个性化治疗。本文将简要介绍视网膜基因和细胞治疗的适用性，视网膜视网膜病变的病理生理学，以及干细胞和基因治疗提供的研究和治疗机会。
A retinal pigmented epithelial (RPE) disorder, bestrophinopathy has recently been proven to be amenable to gene and cell-based therapies in preclinical models. RPE disorders and allied retinal degenerations exhibit significant genetic heterogeneity, and diverse mutations can result in similar disease phenotypes. Several RPE disorders have recently become targets for gene therapies in humans. The year 2011 brought a new advance in cell-based therapies, with the Food and Drug Administration approving clinical trials using embryonic stem cells for an RPE disorder known as age-related macular degeneration. Recent studies on induced pluripotent stem (iPS)-RPE generation indicate strong potential for developing patient-specific disease models in vitro, which could eventually enable personalized treatment. This mini-review will briefly highlight the suitability of the retina for gene and cell therapies, the pathophysiology of bestrophinopathy, and the research and treatment opportunities afforded by stem cell and genetic therapies.