Trevisan Marta, Masi Giulia, Palù Giorgio
Department of Molecular Medicine, University of Padova, Padova, Italy.
Transl Gastroenterol Hepatol. 2020 Apr 5;5:23. doi: 10.21037/tgh.2019.10.10. eCollection 2020.
Liver has a central role in protein and lipid metabolism, and diseases involving hepatocytes have often repercussions on multiple organs and systems. Hepatic disorders are frequently characterized by production of defective or non-functional proteins, and traditional gene therapy approaches have been attempted for years to restore adequate protein levels through delivery of transgenes. Recently, many different genome editing platforms have been developed aimed at correcting at DNA level the defects underlying the diseases. In this Review we discuss the latest applications of these tools applied to develop therapeutic strategies for rare liver disorders, in particular updating the literature with the most recent strategies relying on base editors technology.
肝脏在蛋白质和脂质代谢中起核心作用,涉及肝细胞的疾病常常会对多个器官和系统产生影响。肝脏疾病的特征通常是产生有缺陷或无功能的蛋白质,多年来人们一直尝试采用传统基因治疗方法,通过转基因传递来恢复足够的蛋白质水平。最近,人们开发了许多不同的基因组编辑平台,旨在在DNA水平上纠正导致疾病的缺陷。在本综述中,我们讨论了这些工具在开发罕见肝脏疾病治疗策略方面的最新应用,特别是用基于碱基编辑器技术的最新策略更新文献。