In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa.
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa.
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DOI：
10.1038/mt.2015.220
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发表时间：
2016-03
期刊：
影响因子：
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通讯作者：
Wang S
中科院分区：
文献类型：
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作者：
Bakondi B;Lv W;Lu B;Jones MK;Tsai Y;Kim KJ;Levy R;Akhtar AA;Breunig JJ;Svendsen CN;Wang S
通过簇状规则间隔短回文重复序列(CRISPR)/Cas9进行可靠的基因组编辑可能为纠正患者的遗传性疾病提供一种手段。作为原理的证明，我们证明CRISPR/Cas9可以在体内用于选择性地去除携带显性S334ter突变(RhoS334)的视紫红质基因在建立严重常染色体显性遗传性视网膜色素变性模型的大鼠中。单次视网膜下注射引导RNA/Cas9质粒结合电穿孔可产生RhoS334等位基因特异性干扰，从而防止视网膜退化并改善视觉功能。
Reliable genome editing via Clustered Regularly Interspaced Short Palindromic Repeat (CRISPR)/Cas9 may provide a means to correct inherited diseases in patients. As proof of principle, we show that CRISPR/Cas9 can be used in vivo to selectively ablate the rhodopsin gene carrying the dominant S334ter mutation (RhoS334) in rats that model severe autosomal dominant retinitis pigmentosa. A single subretinal injection of guide RNA/Cas9 plasmid in combination with electroporation generated allele-specific disruption of RhoS334, which prevented retinal degeneration and improved visual function.