Zhang A-Mei, Yao Yong-Gang
Kunming Insti-tute of Zoology, Kunming, China.
Yi Chuan. 2013 Feb;35(2):123-35. doi: 10.3724/sp.j.1005.2013.00123.
Leber hereditary optic neuropathy (LHON; MIM 535000) is one of the most common mitochondrial diseases, with a clinical manifestation of painless, acute or sub-acute bilateral visual loss in young adults leading to blindness and central scotoma. Over 95% of LHON patients were caused by one of three primary mtDNA mutations (m.11778G>A, m.3460G>A and m.14484T>C). Incomplete penetrance and gender bias are two riddles of this disease. Here we summarized recent research progress of LHON, with a focus on the molecular pathogenic mechanisms, clinical features, in vitro experiments and animal models, and prevention and treatment of LHON. In particular, we presented the main findings and challenges in our recent efforts to decipher genetic susceptibility and mechanism of LHON in Chinese patients.
Leber遗传性视神经病变（LHON；MIM 535000）是最常见的线粒体疾病之一，临床表现为年轻人无痛性急性或亚急性双侧视力丧失，最终导致失明和中心暗点。超过95%的LHON患者是由三种主要的线粒体DNA突变（m.11778G>A、m.3460G>A和m.14484T>C）之一引起的。不完全外显率和性别偏倚是该疾病的两个谜团。在此，我们总结了LHON的最新研究进展，重点关注其分子致病机制、临床特征、体外实验和动物模型，以及LHON的预防和治疗。特别是，我们介绍了我们最近在中国患者中破译LHON遗传易感性和机制的主要发现和挑战。
