PDF(Pubmed)
Abstract：
Leber\'s Hereditary Optic Neuropathy (LHON), is one of the most frequent mitochondrial diseases characterized by Retinal Ganglion Cells degeneration. Pathogenic gene mutations in LHON induces mitochondrial impairment, which in turn leads to insufficient mitochondrial ATP production. The pathologic hallmark of the disease is primary degeneration of retinal ganglion cells, which results in optic nerve atrophy. The paper reviews some of the recent advances in the understanding of LHON: new genetics discoveries and novel therapeutic approaches.
摘要：
Leber的遗传性视神经病变（LHON），是以视网膜神经节细胞变性为特征的最常见的线粒体疾病之一。LHON致病基因突变诱导线粒体损伤,这反过来又导致线粒体ATP生产不足。该疾病的病理标志是视网膜神经节细胞的原发性变性，导致视神经萎缩.本文回顾了对LHON的理解的一些最新进展：新的遗传学发现和新的治疗方法。
