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基因特异性基因编辑方法用于视力损失恢复

Xiaozhen Liu^1,2, Jing Qiao³, Ruixuan Jia^1,2

¹Department of Ophthalmology, Third Hospital, Peking University, Beijing, China.

|June 5, 2023

概括

这项研究开发了一种针对T17M RHO突变的新型基因编辑疗法,这是自体主导视网膜炎色素炎 (adRP) 的常见原因. 治疗成功地恢复了视力,并保留了小鼠的光受体,显示出治疗遗传视网膜疾病的前景.

科学领域:

遗传学遗传学是一个
眼科医生眼科眼科
分子生物学分子生物学

背景情况:

突变的RHO基因是自体主导视网膜色素炎 (adRP) 的主要遗传原因.
目前对adRP的治疗方法有限,需要新的治疗策略.

研究的目的:

开发和评估一种针对adRP的T17M RHO突变等位基因的等位基因特定基因编辑治疗方法.
在临床前模型中评估这种基因编辑方法的安全性和有效性.

主要方法:

开发了一种针对T17M RHO突变的基因基因特异性金黄色葡萄球菌Cas9 (SaCas9) 指导RNA.
使用HEK293T细胞和患者衍生的诱导多能干细胞 (iPSCs) 在体外验证.
在RHO人性化小鼠中通过腺相关病毒 (AAV) 载体施用,评估视网膜功能和光受体保护.

主要成果:

证明了SaCas9-sgRNA复合物的高特异性和活性对抗T17M RHO等位基因.
实现了突变异位基因的选择性向,从而减少了突变的RHO mRNA表达 in vivo.
在治疗后长达11个月的时间内,观察到视网膜功能和光受体存活率的长期改善.
证实了剂量依赖的治疗效果,在整个基因组水平上没有可检测的非向突变.

结论:

开发的基因特异性基因编辑疗法对于治疗RHO-T17M相关的adRP.是有效和安全的.
这种方法为adRP提供了潜在的治疗方法,并为其他主要的遗传视网膜变症的基因编辑疗法提供了一个框架.
这项研究验证了基因特异性CRISPR/Cas9基药物用于遗传性视网膜疾病的可行性.

关键词:

这就是CRISPR/Cas9的作用.腺相关病毒的病毒.遗传学遗传学遗传学是一个基因组学就是基因组学.人类人类人类人类人类人类人类人类化的小鼠.这些是iPSCs.这里是鼠标鼠标鼠标鼠标鼠标鼠标.非人类灵长类的灵长类.视网膜炎的颜色化罗多普辛 (Rhodopsin) 是一种植物.

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