肝脏遗传代谢病的基因治疗  

Gene therapy for inherited metabolic diseases of the liver

作　　者：刘馨怡 黄行许 王立生 LIU Xinyi;HUANG Xingxu;WANG Lisheng(Department of Gastroenterology,Second Clinical Medical College,Jinan University,Shenzhen People's Hospital,Shenzhen 510632,China;School of Life Science and Technology,ShanghaiTech University,Shanghai 201210,China)

机构地区：[1]深圳市人民医院消化内科,暨南大学附属第二医学院,深圳518020 [2]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》2020年第8期1298-1308,共11页Chemistry of Life

基　　金：中国博士后科学基金项目(2019M650230)。

摘　　要：肝脏是人体主要的物质代谢器官,在机体能量代谢和稳态维持方面承担着重要责任。由基因突变引起的肝脏遗传代谢病对机体生命健康造成非常大的威胁。相较于传统的治疗方法,基因治疗能够针对致病突变进行根源性治疗。CRISPR/Cas9基因编辑技术"一次递送终生治疗"的特点为肝脏遗传代谢病的长期持续治疗带来了希望。基于CRISPR/Cas9的碱基编辑系统使得之前不能实现或难以实现的基因组点突变精确修复得以高效实现,在肝脏遗传代谢病的治疗中具有非常大的应用潜力。As a central metabolic organ of the body,liver plays a critical role in energy metabolism and homeostasis.Inherited liver metabolic diseases caused by gene mutation pose threaten to people’s health and life.In contrast to traditional treatments,gene therapy targets pathogenic mutations and holds promise for the treatment of inherited metabolic disease.The development and application of CRISPR/Cas9 gene editing tools provide long-lasting clinical benefit in the treatment of inherited liver metabolic disorders.Base editors derived from CRISPR/Cas9 can correct pathogenic point mutations efficiently and precisely,which could not be achieved before,exhibiting great potential in the treatment of liver inherited metabolic disorders.

关 键 词：肝脏遗传代谢病 基因治疗 CRISPR/Cas9 碱基编辑 

分 类 号：R575[医药卫生—消化系统]