C-terminal FUS/TLS mutations in familial and sporadic ALS in Germany
C-terminal FUS/TLS mutations in familial and sporadic ALS in Germany
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DOI：
10.1016/j.neurobiolaging.2009.11.017
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发表时间：
2011-03-01
影响因子：
4.2
通讯作者：
Sendtner, Michael
中科院分区：
文献类型：
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作者：
Drepper, Carsten;Herrmann, Thomas;Sendtner, Michael
肌萎缩侧索硬化症（ALS）是成人运动神经元疾病的主要形式，在超过95%的所有病例中以散发性疾病发生。对家族性形式的分析被认为是理解该疾病病理生理学的关键。预计在散发性ALS中也发现了导致家族性形式的突变。在过去的几年中，已经确定了几个基因座和基因，其中发现了疾病相关的突变。我们在此报告了对来自德国的596例散发性ALS患者、41例家族性ALS病例和其他运动神经元疾病患者进行的FUS/TLS基因突变筛查。所有患者的最后两个外显子的测序显示C1561 T颠换，导致R521 C的氨基酸取代，在一个家族性和一个散发性ALS患者。此外，还鉴定了3名在密码子522处具有同义突变的患者。这些变异体在对照人群中均不存在。我们的研究结果表明，FUS/TLS突变不是德国人群中散发性ALS的主要原因。(C)2009年由Elsevier Inc.出版
Amyotrophic lateral sclerosis (ALS), the major form of motor neuron disease in the adult occurs as a sporadic disease in more than 95% of all cases. Analysis of familial forms is considered as a key to understand the pathophysiology of the disease. It is expected that mutations responsible for familial forms are also found in sporadic ALS. During the past years, several loci and genes have been identified in which disease associated mutations have been discovered. We report here on the screening of 596 sporadic ALS patients, 41 familial ALS cases and other motor neuron disease patients from Germany for mutations in the FUS/TLS gene. Sequencing of the last two exons in all patients revealed the C1561T transversion, which leads to the amino acid substitution at R521C, in one familial and one sporadic ALS patient. In addition three patients with a synonymous mutation at codon 522 were identified. None of these variants were present in the control population. Our results indicate that mutations in FUS/TLS are not a major cause of sporadic ALS in the German population. (C) 2009 Published by Elsevier Inc.