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科学通报  2013 

Leber先天性黑蒙症分子机制研究新进展及未来展望

DOI: 10.1360/972013-54, PP. 3770-3776

Keywords: Leber先天性黑蒙症,NMNAT1,基因治疗

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Abstract:

Leber先天性黑蒙症是一种严重的遗传性视网膜病变,常在婴幼儿时期发病,并伴有糖尿病、肥胖和尿崩症等一系列并发症,目前尚无特效药可以治疗.之前的一系列研究发现,有17个基因和Leber先天性黑蒙症相关.但是这17个基因仅能解释70%左右的先天性黑蒙症的发病机制,本实验室(MingQi实验组)及其他三个实验组(Jean-MichelRozet实验组、EricAPierce实验组、RuiChen实验组)最新发表在NatGenet上的4篇论文揭示出NMNAT1基因也是Leber先天性黑蒙症的致病基因.这一发现解释了部分Leber先天性黑蒙症的遗传学机制,也为后期Leber先天性黑蒙症的诊断和基因治疗提供了理论依据.

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