1 School of Life Sciences, Central South University , Changsha, China .
2 Hunan Jiahui Genetics Hospital , Changsha, China .
Hum Gene Ther. 2018 Feb;29(2):146-150. doi: 10.1089/hum.2017.213.
Gene therapy is a new technology that provides potential for curing monogenic diseases caused by mutations in a single gene. Hemophilia and Duchenne muscular dystrophy (DMD) are ideal target diseases of gene therapy. Important advances have been made in clinical trials, including studies of adeno-associated virus vectors in hemophilia and antisense in DMD. However, issues regarding the high doses of viral vectors required and limited delivery efficiency of antisense oligonucleotides have not yet been fully addressed. As an alternative strategy to classic gene addition, genome editing based on programmable nucleases has also shown promise to correct mutations in situ. This review describes the recent progress made by Chinese researchers in gene therapy for hemophilia and DMD.
基因治疗是一种新技术，为治疗由单个基因突变引起的单基因疾病提供了潜力。血友病和杜氏肌营养不良症（DMD）是基因治疗的理想目标疾病。在临床试验中取得了重要进展，包括腺相关病毒载体在血友病中的研究和反义寡核苷酸在 DMD 中的研究。然而，关于所需的高剂量病毒载体和反义寡核苷酸有限的递送效率的问题尚未得到充分解决。作为经典基因添加的替代策略，基于可编程核酸酶的基因组编辑也显示出纠正原位突变的潜力。本文综述了中国研究人员在血友病和 DMD 的基因治疗方面的最新进展。
