Leber遗传性视神经病变的基因治疗进展
Gene therapy for leber hereditary optic neuropathy
刘若武 1张晗2
作者信息
- 1. 山东大学齐鲁医学院,山东 济南 250012
- 2. 山东省立医院 眼科,山东 济南 250021
- 折叠
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.
Abstract
Leber hereditary optic neuropathy(LHON)is a maternal hereditary mitochondrial disease which is a common cause of bi-lateral 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 muta-tions 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,dif-ferent 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.
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Key words
Leber hereditary optic neuropathy/Gene therapy/Mitochondrial disease/Gene mutation引用本文复制引用
出版年
2024
NETL
NSTL
万方数据