Application of CRISPR/Cas9 genome editing technology in the research of eye diseases

Authors:  Fan Xiangyu,  Xu Jianjiang

DOI: 10.3760/cma.j.issn.2095-0160.2018.07.015
Published 2018-07-10
Cite as Chin J Exp Ophthalmol, 2018,36(7): 553-558.

Abstract

The clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein (Cas) is an adaptive immune system against invasive viruses and exogenous DNA, which is developed by bacteria and archaer during long-term evolution.With advances in technology, researchers have found that CRISPR/Cas9 system can precisely edit the genomes of eukaryotic cells through insertion, replacement or deletion of target genes.Using CRISPR/Cas9 genome editing technology, researchers found that overexpression of paired box gene 6 (PAX6) in cornea can cause congenital corneal epithelial damage; this technology promoted the research on the pathogenic mechanism of keratin 12 (KRT12) mutation in Meesmann corneal epithelial dystrophy; it has also built congenital cataract animal models by knocking out the GJA8 gene and αA lens gene, which is beneficial to the application of the diagnosis and pathological analysis of congenital cataract.In addition, the researchers have used CRISPR/Cas9 genome editing technology to confirm the correlation of RHOS334 mutated RHO allele, P23H mutated RHO gene, Y347X mutated Pde6b gene, and mutant RP9 allele with retinitis pigmentosa.The application of this technology has provided evidence to support the association of KCNJ13 gene and mutant CEP290 gene with Leber congenital amaurosis.CRISPR/Cas9 can provide target spot of intraocular neovascular diseases the targeted therapy by editing of VEGFR2 gene and TXNIP gene, and it also playse an important role in the study of pathogenic genes and establishment of animal models for proliferative vitreoretinopathy and retinoblastoma.In this review, we introduced the evolutionary history, the molecular characteristics and the mechanism of CRISPR/Cas9, and summarized its current research advances in eye diseases.

Key words:

CRISPR/Cas9; Gene editing technology; Eye diseases; Animal disease models; Gene therapy

Contributor Information

Fan Xiangyu
Department of Eye & Visual Science, Eye, Ear, Nose & Throat Hospital, Fudan University, Shanghai 200031, China
Xu Jianjiang
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Updated: September 4, 2019 — 9:31 am