近日,，來自蒙特利爾大學(xué)等機(jī)構(gòu)的研究者揭示了某些特發(fā)性震顫（ET）和特殊的遺傳問題之間的相關(guān)性,，ET是一種常見的運(yùn)動型障礙,，隨著年齡增加,，發(fā)病的頻率會持續(xù)增加,，主要的特征是在行動中的一種無意識的搖動或顫抖，相關(guān)研究成果刊登在了8月3日的國際雜志The American Journal of Human Genetics上,。
目前無意識的搖動并沒有人知道為什么,，盡管有許多證據(jù)顯示這種疾病和遺傳有一定的關(guān)系，但是研究者并沒有給出直接的關(guān)聯(lián)性,?？茖W(xué)家們知道肉瘤融合FUS基因的突變可以引發(fā)肌萎縮側(cè)索硬化（ALS）。ET研究小組在研究中成功發(fā)現(xiàn)了引發(fā)ET的特定基因的突變,，他們同時也證明了引發(fā)ET的突變和ALS FUS突變并不一樣,。
研究發(fā)現(xiàn)首次為世界的科學(xué)家們揭示了特發(fā)性震顫發(fā)生的分子機(jī)制，尤其是未來對于治療ET的藥物的研發(fā),，目前在診斷ET上并沒有統(tǒng)一的意見,，然而遺傳方法檢測卻顯得非常有用，尤其是針對家族遺傳疾病,。遺傳診斷的過多改變會造成ET的誤診,。誤診在每個個體身上發(fā)生的比例為37-50%，相關(guān)研究由加拿大衛(wèi)生研究院支持,。（生物谷Bioon.com）
編譯自：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.
