TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis.
TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis.
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DOI：
10.1371/journal.pone.0002450
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发表时间：
2008-06-11
期刊：
影响因子：
3.7
通讯作者：
Traynor BJ
中科院分区：
文献类型：
--
作者：
Guerreiro RJ;Schymick JC;Crews C;Singleton A;Hardy J;Traynor BJ
由TARDBP编码的TAR DNA结合蛋白被证明是额颞叶变性（FTLD-U）和肌萎缩性侧索硬化症（ALS）中泛素阳性、tau阴性内含物的核心成分。最近，TARDBP突变与家族性和散发性ALS有关。为了进一步研究散发性ALS患者TARDBP突变的频率，对279例ALS患者和806例欧洲血统的神经正常对照进行了序列变异、拷贝数变异、遗传和单倍型与疾病的相关性筛查。来自人类基因多样性小组的另外173个非洲样本进行了测序，因为该人群最有可能发现变化。在ALS病例中未发现突变。在对照组中发现了一些遗传变异，这些变异被认为是非致病性的变化。此外，在病例中未观察到致病性结构变异，并且在TARDBP位点上与疾病状态没有遗传或单倍型关联。我们的数据表明，TARDBP的遗传变异不是北美散发性ALS的常见原因。
TAR DNA binding protein, encoded by TARDBP, was shown to be a central component of ubiquitin-positive, tau-negative inclusions in frontotemporal lobar degeneration (FTLD-U) and amyotrophic lateral sclerosis (ALS). Recently, mutations in TARDBP have been linked to familial and sporadic ALS. To further examine the frequency of mutations in TARDBP in sporadic ALS, 279 ALS cases and 806 neurologically normal control individuals of European descent were screened for sequence variants, copy number variants, genetic and haplotype association with disease. An additional 173 African samples from the Human Gene Diversity Panel were sequenced as this population had the highest likelihood of finding changes. No mutations were found in the ALS cases. Several genetic variants were identified in controls, which were considered as non-pathogenic changes. Furthermore, pathogenic structural variants were not observed in the cases and there was no genetic or haplotype association with disease status across the TARDBP locus. Our data indicate that genetic variation in TARDBP is not a common cause of sporadic ALS in North American.
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