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首页> 外文期刊>Neurobiology of Aging: Experimental and Clinical Research >Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation
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Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation

机译：全外膜序列测序和鉴定新型HNRNPA1突变日本人群家族肌萎缩侧硬化的分子流行病学研究

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Abstract To elucidate the genetic epidemiology of familial amyotrophic lateral sclerosis (FALS) in the Japanese population, we conducted whole-exome sequencing analysis of 30 FALS families in whom causative mutations have not been identified in previous studies. Consequently, whole-exome sequencing analysis revealed novel mutations in HNRNPA1 , TBK1 , and VCP . Taken together with our previous results of mutational analyses by direct nucleotide sequencing analysis, a microarray-based resequencing method, or repeat-primed PCR analysis, causative mutations were identified in 41 of the 68 families (60.3%) with SOD1 being the most frequent cause of FALS (39.7%). Of the mutations identified in this study, a novel c.862/1018C>G (p.P288A/340A) mutation in HNRNPA1 located in the nuclear localization signal domain of hnRNPA1, enhances the recruitment of mutant hnRNPA1 into stress granules, indicating that an altered nuclear localization signal activity plays an essential role in amyotrophic lateral sclerosis pathogenesis.
机译：摘要为了阐明在日本人群中家族肌萎缩外壳中毒（FAL）的遗传流行病学，我们对30名FAL家族进行了全面的序列分析，在以前的研究中尚未确定致病性突变。因此，全末端测序分析显示了HNRNPA1，TBK1和VCP中的新型突变。通过直接核苷酸测序分析，通过直接核苷酸测序分析，在68个家族（60.3％）中的41个基于微阵列的Resequencing方法，致原因突变，致原因突变，在68个家族（60.3％）的41中，鉴定了致癌的突变的突变的结果FAL（39.7％）。在本研究中鉴定的突变中，在HNRNPA1的核定位信号结构域中的HNRNPA1中的新型C.862 / 1018C> G（P.P288A / 340A）突变增强了突变体HNRNPA1进入应激颗粒的募集，表明该改变的核定位信号活性在肌萎缩侧面硬化发病机制中起着重要作用。

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