Suppr超能文献

诱导多能干细胞和基因组编辑工具在确定遗传性视网膜疾病的基因功能和治疗中的应用。

Induced Pluripotent Stem Cells and Genome-Editing Tools in Determining Gene Function and Therapy for Inherited Retinal Disorders.

机构信息

Centre for Regenerative Medicine, Department of Life Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.

UCL Institute of Ophthalmology, London EC1V 9EL, UK.

出版信息

Int J Mol Sci. 2022 Dec 3;23(23):15276. doi: 10.3390/ijms232315276.

Abstract

Inherited retinal disorders (IRDs) affect millions of people worldwide and are a major cause of irreversible blindness. Therapies based on drugs, gene augmentation or transplantation approaches have been widely investigated and proposed. Among gene therapies for retinal degenerative diseases, the fast-evolving genome-editing CRISPR/Cas technology has emerged as a new potential treatment. The CRISPR/Cas system has been developed as a powerful genome-editing tool in ophthalmic studies and has been applied not only to gain proof of principle for gene therapies in vivo, but has also been extensively used in basic research to model diseases-in-a-dish. Indeed, the CRISPR/Cas technology has been exploited to genetically modify human induced pluripotent stem cells (iPSCs) to model retinal disorders in vitro, to test in vitro drugs and therapies and to provide a cell source for autologous transplantation. In this review, we will focus on the technological advances in iPSC-based cellular reprogramming and gene editing technologies to create human in vitro models that accurately recapitulate IRD mechanisms towards the development of treatments for retinal degenerative diseases.

摘要

遗传性视网膜疾病(IRDs)影响着全球数百万人,是导致不可逆转失明的主要原因之一。基于药物、基因增强或移植方法的治疗方法已经得到了广泛的研究和提出。在针对视网膜退行性疾病的基因治疗中,快速发展的基因组编辑 CRISPR/Cas 技术已成为一种新的潜在治疗方法。CRISPR/Cas 系统已被开发为眼科研究中一种强大的基因组编辑工具,不仅已被用于在体内证明基因治疗的原理,而且还被广泛用于疾病模型的基础研究。事实上,CRISPR/Cas 技术已被用于遗传修饰人诱导多能干细胞(iPSCs),以在体外模拟视网膜疾病,测试体外药物和治疗方法,并为自体移植提供细胞来源。在这篇综述中,我们将重点介绍基于 iPSC 的细胞重编程和基因编辑技术的技术进步,以创建准确再现 IRD 机制的人类体外模型,从而开发治疗视网膜退行性疾病的方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/14c8/9735568/8ada9605bd5c/ijms-23-15276-g001.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验