Leber遗传性视神经病变线粒体损伤的研究

Research on mitochondrial damage in Leber hereditary optic neuropathy

Leber遗传性视神经病变（Leber hereditary optic neuropathy，LHON）是一类典型的母系遗传性疾病，线粒体功能障碍与应激反应参与视网膜神经节细胞的变性、凋亡。LHON研究模型的不断改良为LHON分子机制的探讨提供良好的实验基础，其中异位表达的LHON突变细胞是现阶段的主要研究工具。基因治疗为LHON治疗的一个突破点，已在临床展开试验。

Leber hereditary optic neuropathy （LHON） is a maternally transmitted hereditary dis- ease. Mitochondrial dysfunction and stress are involved in the degeneration and apoptosis of retinal ganglion cells （RGCs）. The continuous innovation and improvement of the LHON models provide a good experimental basis for the study of the molecular mechanism of LHON. Among them, the ectopically expressed LHON mutant cells are the main research tools at this stage. Gene therapy is a breakthrough point in the treatment of LHON which has been tested in the clinic.