Leber遗传性视神经病变的基因治疗进展

doi:10.6040/j.issn.1673-3770.0.2023.074

摘要/Abstract

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。

关键词: Leber遗传性视神经病变, 基因治疗, 线粒体疾病, 基因突变, 基因修饰

Abstract: Leber hereditary optic neuropathy(LHON)is a maternal hereditary mitochondrial disease which is a common cause of bilateral teenaged blindness. LHON is a complex and multifactorial disease for which more than 50 associated mitochondrial DNA(mtDNA)mutations have been found. Further, about 90% of global Leber hereditary optic neuropathy cases have the mtDNA mutations m.11778G>A, m.3460G>A, or m.14484T>C. As an important method of future medical treatment, gene therapy is becoming a hot spot in current research, and gene therapies targeting mtDNA mutations are among the fastest developing of these therapies. Currently, basic research on gene therapies targeting mtDNA mutations has demonstrated its safety in animal studies. Currently, different teams are initiating clinical phase I/II studies of the safety and efficacy of gene therapy products in patients. Herein, we review the progress of gene therapy for LHON.

Key words: Leber hereditary optic neuropathy, Gene therapy, Mitochondrial disease, Gene mutation

中图分类号:

R774.6

刘若武,张晗. Leber遗传性视神经病变的基因治疗进展[J]. 山东大学耳鼻喉眼学报, 2024, 38(4): 154-158.

LIU Ruowu, ZHANG Han. Gene therapy for leber hereditary optic neuropathy[J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2024, 38(4): 154-158.

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