CRISPR-mediated genome editing and human diseases.
CRISPR-mediated genome editing and human diseases.
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DOI：
10.1016/j.gendis.2016.07.003
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发表时间：
2016-12
期刊：
影响因子：
6.8
通讯作者：
Xie Z
中科院分区：
文献类型：
--
作者：
Cai L;Fisher AL;Huang H;Xie Z
CRISPR （Clustered Regularly Interspaced Short Palindromic Repeats）技术是一种强大的基因组编辑技术，现已广泛应用于基础生物医学研究，探索基因功能。最近，这项技术越来越多地应用于人类疾病的研究或治疗，包括巴特综合征对心脏的影响、杜氏肌营养不良症、血友病、β-地中海贫血和囊性纤维化。CRISPR/Cas9 （CRISPR相关蛋白9）基因组编辑已被用于纠正从体外细胞到体内动物的模型系统中从单个碱基对到大缺失的致病DNA突变。除了遗传疾病，CRISPR/Cas9基因编辑还被应用于以免疫学为重点的应用，例如靶向C-C趋化因子受体5型，程序性死亡1基因，或在T细胞中创建嵌合抗原受体，用于治疗获得性免疫缺陷综合征（艾滋病）或促进抗肿瘤免疫治疗等目的。此外，这项技术已被应用于驯化动物的基因操作，目的是大规模生产生物医学材料，包括分子、细胞或器官。最后，CRISPR/Cas9已与诱导多能干细胞（iPS）合作，以执行多种组织工程任务，包括创建疾病模型或制备用于移植的供体特异性组织。这篇综述将探讨CRISPR/Cas9的使用如何为人类疾病的治疗打开新的大门。
CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) technology has emerged as a powerful technology for genome editing and is now widely used in basic biomedical research to explore gene function. More recently, this technology has been increasingly applied to the study or treatment of human diseases, including Barth syndrome effects on the heart, Duchenne muscular dystrophy, hemophilia, β-Thalassemia, and cystic fibrosis. CRISPR/Cas9 (CRISPR-associated protein 9) genome editing has been used to correct disease-causing DNA mutations ranging from a single base pair to large deletions in model systems ranging from cells in vitro to animals in vivo. In addition to genetic diseases, CRISPR/Cas9 gene editing has also been applied in immunology-focused applications such as the targeting of C-C chemokine receptor type 5, the programmed death 1 gene, or the creation of chimeric antigen receptors in T cells for purposes such as the treatment of the acquired immune deficiency syndrome (AIDS) or promoting anti-tumor immunotherapy. Furthermore, this technology has been applied to the genetic manipulation of domesticated animals with the goal of producing biologic medical materials, including molecules, cells or organs, on a large scale. Finally, CRISPR/Cas9 has been teamed with induced pluripotent stem (iPS) cells to perform multiple tissue engineering tasks including the creation of disease models or the preparation of donor-specific tissues for transplantation. This review will explore the ways in which the use of CRISPR/Cas9 is opening new doors to the treatment of human diseases.