碱基编辑提供了一种罕见遗传病致病突变修复的可行策略  

Base editing is a feasible strategy for correction of the pathogenic mutations of rare inherited diseases

作　　者：李广磊 黄行许 LI Guanglei;HUANG Xingxu(School of Life Science and Technology,ShanghaiTech University,Shanghai 201210,China)

机构地区：[1]上海科技大学生命科学与技术学院,上海201210

出　　处：《生命的化学》2019年第1期6-12,共7页Chemistry of Life

基　　金：国家重点研发计划项目(2016YFA0500903)

摘　　要：罕见遗传病是人类医学面临的最大挑战之一,基因疗法是治疗罕见遗传病的最适方法之一。传统的基因治疗存在技术、递送和费用等方面的限制。基因编辑,特别是最近发展起来的碱基编辑技术,由于高效、准确、安全,使得早期胚胎的基因编辑逐渐被接受,从而使得通过胚胎基因编辑对罕见遗传病的致病突变进行修复成为可能。并且,由于具备合理、有效、经济、可靠等优势,基于碱基编辑修复致病突变的早期胚胎基因治疗注定将成为某些罕见遗传病的可行的、不可替代的治疗策略。为了早日实现临床胚胎基因治疗,需要进一步完善现有的技术,并加紧临床前实验。同时,通过改良监管审批程序,以及建立共享平台和共性技术等,可以进一步降低罕见遗传病的基因治疗费用。Rare disease is one of the biggest medicine challenges. Therefore, gene therapy is considered as the most appropriate treatment. However, gene therapy has long been limited by the technology, delivery,cost, etc. Recent developed genome editing, especially the base editing characterized with efficient, accurate and safe base substitution, makes genome precise editing in human early embryos feasible, which provides the potential to correct the pathogenic mutation of rare inherited disease. Furthermore, base editing-based early embryos gene therapy is easily developed and cheap. All of these confer it as one of the most suitable strategies for the rare inherited diseases. Nevertheless, to demonstrate the future potential of embryos gene therapy in rare inherited diseases, it is extremely expected to improve current technology, to carefully perform the preclinical test. Meanwhile, to reduce the cost, it is necessary to approve standard procedures, to build sharing platforms, and to develop common technologies, etc.

关 键 词：罕见遗传病 基因治疗 碱基编辑 早期胚胎 

分 类 号：R450[医药卫生—治疗学]