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김대식
유전체 교정 연구단
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CRISPR-Cas9–mediated therapeutic editing of Rpe65 ameliorates the disease phenotypes in a mouse model of Leber congenital amaurosis

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Title
CRISPR-Cas9–mediated therapeutic editing of Rpe65 ameliorates the disease phenotypes in a mouse model of Leber congenital amaurosis
Author(s)
Jo D.H.; Song D.W.; Cho C.S.; Kim U.G.; Lee K.J.; Lee K.; Park S.W.; Daesik Kim; Kim J.H.; Jin-Soo Kim; Kim S.; Kim J.H.; Lee J.M.
Publication Date
2019-10
Journal
SCIENCE ADVANCES, v.5, no.10, pp.eaax1210 -
Publisher
AMER ASSOC ADVANCEMENT SCIENCE
Abstract
Copyright © 2019 The Authors,Leber congenital amaurosis (LCA), one of the leading causes of childhood-onset blindness, is caused by autosomal recessive mutations in several genes including RPE65. In this study, we performed CRISPR-Cas9–mediated therapeutic correction of a disease-associated nonsense mutation in Rpe65 in rd12 mice, a model of human LCA. Subretinal injection of adeno-associated virus carrying CRISPR-Cas9 and donor DNA resulted in >1% homology-directed repair and ~1.6% deletion of the pathogenic stop codon in Rpe65 in retinal pigment epithelial tissues of rd12 mice. The a- and b-waves of electroretinograms were recovered to levels up to 21.2 ± 4.1% and 39.8 ± 3.2% of their wild-type mice counterparts upon bright stimuli after dark adaptation 7 months after injection. There was no definite evidence of histologic perturbation or tumorigenesis during 7 months of observation. Collectively, we present the first therapeutic correction of an Rpe65 nonsense mutation using CRISPR-Cas9, providing new insight for developing therapeutics for LCA
URI
https://pr.ibs.re.kr/handle/8788114/6850
ISSN
2375-2548
Appears in Collections:
Center for Genome Engineering(유전체 교정 연구단) > Journal Papers (저널논문)
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