ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis
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DOI：
10.1038/ng1742
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发表时间：
2006-04-01
期刊：
影响因子：
30.8
通讯作者：
Hardiman, O
中科院分区：
文献类型：
--
作者：
Greenway, MJ;Andersen, PM;Hardiman, O
我们最近发现血管生成素（ANG）是肌萎缩性侧索硬化症（ALS）的候选易感基因，肌萎缩性侧索硬化症是一种以成人发病的运动神经元丧失为特征的神经退行性疾病。我们现在报告在15个人中发现了7个错义突变，其中4人患有家族性ALS， 11人明显是“散发性”ALS。我们的研究结果进一步证明，缺氧诱导基因的变异在运动神经元变性中起重要作用。
We recently identified angiogenin (ANG) as a candidate susceptibility gene for amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder characterized by adult-onset loss of motor neurons. We now report the finding of seven missense mutations in 15 individuals, of whom four had familial ALS and 11 apparently 'sporadic' ALS. Our findings provide further evidence that variations in hypoxia-inducible genes have an important role in motor neuron degeneration.