Prakash Versha, Moore Marc, Yáñez-Muñoz Rafael J
School of Biological Sciences, Royal Holloway, University of London, Egham, Surrey, UK.
Mol Ther. 2016 Mar;24(3):465-74. doi: 10.1038/mt.2016.5. Epub 2016 Jan 14.
Programmable nucleases allow defined alterations in the genome with ease-of-use, efficiency, and specificity. Their availability has led to accurate and widespread genome engineering, with multiple applications in basic research, biotechnology, and therapy. With regard to human gene therapy, nuclease-based gene editing has facilitated development of a broad range of therapeutic strategies based on both nonhomologous end joining and homology-dependent repair. This review discusses current progress in nuclease-based therapeutic applications for a subset of inherited monogenic diseases including cystic fibrosis, Duchenne muscular dystrophy, diseases of the bone marrow, and hemophilia and highlights associated challenges and future prospects.
可编程核酸酶能够轻松、高效且特异地对基因组进行特定改变。它们的出现使得准确且广泛的基因组工程成为可能，在基础研究、生物技术和治疗等多个领域都有应用。在人类基因治疗方面，基于核酸酶的基因编辑推动了基于非同源末端连接和同源依赖性修复的多种治疗策略的发展。本文综述了基于核酸酶的治疗应用在包括囊性纤维化、杜氏肌营养不良、骨髓疾病和血友病在内的一部分遗传性单基因疾病方面的当前进展，并强调了相关挑战和未来前景。
