先天性肺疾病的基因编辑技术应用进展

Advances in gene editing for congenital lung diseases

先天性肺疾病病因复杂,大多由单基因突变引起,目前临床治疗方法有限,病死率高。基因编辑技术的发展及广泛应用为呼吸系统单基因病的治疗带来新的希望,尤其是CRISPR/Cas9技术发挥着重要的作用。本文从常见呼吸系统单基因病入手,重点介绍CRISPR/Cas9作为基因编辑工具的特点及优势,以及基因编辑技术在原发性纤毛运动障碍、表面活性蛋白缺乏症、囊性纤维化和α1-抗胰蛋白酶缺乏症中的应用进展,并浅析先天性肺疾病基因编辑技术应用所面临的机遇及挑战。

Congenital lung disease,with complex etiology,is mostly caused by single gene mutation and is of high fatality rate due to limited clinical therapies currently available.The development and wide application of gene editing technology will hold new promise for the treatment of single gene disease of respiratory system,and CRISPR/Cas9 technology plays an especially important role.Starting with common monogenic diseases of respiratory system,this paper focuses on the characteristics and advantages of CRISPR/Cas9 as a gene editing tool,as well as the application of gene editing technology in PCD,SP deficiency,CF and AAT deficiency.Meanwhile,it analyzes the opportunities and challenges faced by gene editing technology for congenital lung diseases.