原发性纤毛运动障碍基因治疗的现状和展望

Current Status and Prospects of Gene Therapy for Primary Ciliary Dyskinesia

  • 摘要: 原发性纤毛运动障碍(primary ciliary dyskinesia,PCD)是一种以运动纤毛结构或功能异常为特征的异质性遗传性疾病,临床常表现为反复呼吸道感染、内脏反位、脑积水和不孕不育等。目前,临床上尚无直接恢复纤毛运动功能以治疗PCD的疗法。近年来,针对该疾病,研究人员在体外实验及小鼠模型中已采用基因替代、基因编辑及RNA治疗等方法进行基因治疗的探索,为PCD的临床治疗提供了潜在的新策略。本文对PCD基因治疗研究现状进行系统总结,讨论了不同基因疗法的治疗潜力,并对该疾病的未来治疗方向进行展望。

     

    Abstract: Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease characterized by structural or functional abnormalities of motile cilia. It often presents clinically with recurrent respiratory infections, situs inversus, hydrocephalus, and infertility. Currently, there is no clinical treatment to directly restore ciliary motility in PCD patients.In recent years, researchers have explored gene therapy methods such as gene replacement, gene editing, and RNA replacement in vitro and in mouse models, offering potential new strategies for PCD treatment. This paper comprehensively reviews the current status of PCD gene therapy research, evaluates the potential of different gene therapies, and provides an outlook on the future treatment directions for this disease.

     

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