Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis
Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis
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DOI：
10.1212/wnl.0b013e31821f4447
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发表时间：
2011-06-01
期刊：
影响因子：
9.9
通讯作者：
Gitler, A. D.
中科院分区：
文献类型：
--
作者：
Lee, T.;Li, Y. R.;Gitler, A. D.
目的：鉴于最近发现在ataxin 2中中长度聚谷氨酰胺（polyQ）扩增与肌萎缩性侧索硬化症（ALS）之间存在关联，我们试图确定其他polyQ疾病基因的扩增是否与ALS相关。方法：对数百例散发性肌萎缩侧索硬化患者和健康对照者的ataxin 1、ataxin 3、ataxin 6、ataxin 7、TBP、atrophin 1和huntingtin的polyQ长度进行测定。结果：除ataxin 2外，我们未发现其他多q基因与ALS有显著关联。结论：这些数据表明，ataxin 2 polyQ扩增对ALS风险的影响可能植根于ataxin 2或ataxin 2特异性相互作用的生物学，而不是扩展的polyQ重复序列本身的存在。这些发现对于理解ataxin 2在ALS发病机制中的作用具有重要意义，并为未来的机制研究提供了框架。神经病学(R) 2011；76: 2062 - 2065
Objective: Given the recent finding of an association between intermediate-length polyglutamine (polyQ) expansions in ataxin 2 and amyotrophic lateral sclerosis (ALS), we sought to determine whether expansions in other polyQ disease genes were associated with ALS.Methods: We assessed the polyQ lengths of ataxin 1, ataxin 3, ataxin 6, ataxin 7, TBP, atrophin 1, and huntingtin in several hundred patients with sporadic ALS and healthy controls.Results: Other than ataxin 2, we did not identify a significant association with the other polyQ genes and ALS.Conclusions: These data indicate that the effects of ataxin 2 polyQ expansions on ALS risk are likely to be rooted in the biology of ataxin 2 or ataxin 2-specific interactions, rather than the presence of an expanded polyQ repeat per se. These findings have important consequences for understanding the role of ataxin 2 in ALS pathogenesis and provide a framework for future mechanistic studies. Neurology (R) 2011; 76: 2062-2065