遗传 ›› 2013, Vol. 35 ›› Issue (2): 123-135.doi: 10.3724/SP.J.1005.2013.00123
• 综述 • 下一篇
张阿梅, 姚永刚
收稿日期:2012-08-24
修回日期:2012-10-09
出版日期:2013-02-20
发布日期:2013-02-25
通讯作者:
姚永刚
E-mail:yaoyg@mail.kiz.ac.cn
基金资助:国家自然科学基金项目(编号：30925021)和云南省高端科技人才项目(编号：2009CI119)资助
ZHANG A-Mei, YAO Yong-Gang
Received:2012-08-24
Revised:2012-10-09
Online:2013-02-20
Published:2013-02-25
摘要： Leber遗传性视神经病变(Leber hereditary optic neuropathy, LHON; MIM535000)是最典型的线粒体遗传病之一, 主要由线粒体DNA (Mitochondrial DNA, mtDNA)3个原发突变(Primary mutation, m.11778G>A、m.3460G> A 和m.14484T>C)引起。患者表现为无痛性双侧视力下降或丧失, 主要易感人群为青壮年男性。不完全外显(Incomplete penetrance)和性别偏好(Gender bias)是该病亟待解决的两大难题, 目前尚无有效的预防及治疗措施。文章对近年来LHON 的分子发病机制、临床症状及特点、体外实验和动物模型研究、预防及治疗等方面的研究进展进行综述, 并集中介绍了我们近期对于我国LHON患者的研究结果。
张阿梅 姚永刚. Leber遗传性视神经病变研究进展和挑战[J]. 遗传, 2013, 35(2): 123-135.
ZHANG A-Mei YAO Yong-Gang. Research progress of Leber hereditary optic neuropathy[J]. HEREDITAS, 2013, 35(2): 123-135.
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