近日，来自蒙特利尔大学等机构的研究者揭示了某些特发性震颤（ET）和特殊的遗传问题之间的相关性，ET是一种常见的运动型障碍，随着年龄增加，发病的频率会持续增加，主要的特征是在行动中的一种无意识的摇动或颤抖，相关研究成果刊登在了8月3日的国际杂志The American Journal of Human Genetics上。
目前无意识的摇动并没有人知道为什么，尽管有许多证据显示这种疾病和遗传有一定的关系，但是研究者并没有给出直接的关联性。科学家们知道肉瘤融合FUS基因的突变可以引发肌萎缩侧索硬化（ALS）。ET研究小组在研究中成功发现了引发ET的特定基因的突变，他们同时也证明了引发ET的突变和ALS FUS突变并不一样。
研究发现首次为世界的科学家们揭示了特发性震颤发生的分子机制，尤其是未来对于治疗ET的药物的研发，目前在诊断ET上并没有统一的意见，然而遗传方法检测却显得非常有用，尤其是针对家族遗传疾病。遗传诊断的过多改变会造成ET的误诊。误诊在每个个体身上发生的比例为37-50%，相关研究由加拿大卫生研究院支持。（生物谷Bioon.com）
编译自：Genetic Cause for Body Tremors Found
doi:10.1016/j.ajhg.2012.07.002
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Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor
Nancy D. Merner1, 2, Simon L. Girard1, 2, Hélène Catoire1, 2, Cynthia V. Bourassa1, 2, Véronique V. Belzil1, 2, Jean-Baptiste Rivière1, 2, Pascale Hince1, 2, Annie Levert1, 2, Alexandre Dionne-Laporte1, 2, Dan Spiegelman1, 2, Anne Noreau1, 2, Sabrina Diab1, 2, Anna Szuto1, 2, Hélène Fournier3, John Raelson3, Majid Belouchi3, Michel Panisset2, 4, Patrick Cossette1, 2, Nicolas Dupré5, Geneviève Bernard2, 4, Sylvain Chouinard2, 4, Patrick A. Dion1, 2, 6 and Guy A. Rouleau1, 2, 4, 7, ,
Essential tremor (ET) is a common neurodegenerative disorder that is characterized by a postural or motion tremor. Despite a strong genetic basis, a gene with rare pathogenic mutations that cause ET has not yet been reported. We used exome sequencing to implement a simple approach to control for misdiagnosis of ET, as well as phenocopies involving sporadic and senile ET cases. We studied a large ET-affected family and identified a FUS p.Gln290 mutation as the cause of ET in this family. Further screening of 270 ET cases identified two additional rare missense FUS variants. Functional considerations suggest that the pathogenic effects of ET-specific FUS mutations are different from the effects observed when FUS is mutated in amyotrophic lateral sclerosis cases; we have shown that the ET FUS nonsense mutation is degraded by the nonsense-mediated-decay pathway, whereas amyotrophic lateral sclerosis FUS mutant transcripts are not.
