山东大学耳鼻喉眼学报 ›› 2024, Vol. 38 ›› Issue (4): 154-158.doi: 10.6040/j.issn.1673-3770.0.2023.074
• 综述 • 上一篇
刘若武1,张晗2
LIU Ruowu1, ZHANG Han2
摘要: Leber遗传性视神经病变(LHON)是一种母体遗传性线粒体疾病,是青少年双眼失明的常见原因。LHON是一种复杂的多因素疾病,超过50种线粒体DNA(mtDNA)突变已被发现与LHON相关,全球约90%的LHON病例由m.11778G>A、m.3460 G>A或m.14484T>C的基因突变引起。基因治疗作为未来医学治疗的重要方法,正成为当前研究的热点,而针对mtDNA突变的基因疗法是其中进展最快的基因疗法。目前,针对mtDNA突变的基因治疗的基础研究已经在动物实验中证实其具有安全性。不同的团队正在启动基因治疗产品在人类中的安全性和有效性的临床I/II期研究。本文就LHON的基因治疗最新进展进行综述。
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