Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis
Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis
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DOI：
10.1136/jmg.2008.062463
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发表时间：
2009-02-01
影响因子：
4
通讯作者：
Rouleau, G. A.
中科院分区：
文献类型：
--
作者：
Daoud, H.;Valdmanis, P. N.;Rouleau, G. A.
目的和背景：编码TAR DNA结合蛋白（TDP-43）的TARDBP基因突变已在家族性和散发性肌萎缩性侧索硬化症（ALS）患者中被描述。我们筛选了285名法国散发性ALS患者的TARDBP基因，以评估ALS患者TARDBP突变的频率。结果：6例个体存在潜在有害突变，其中3例为新突变，包括Y374X截断突变和P363A和A382P错义突变。这表明TARDBP突变可能在本研究中随访的约2%的个体中易患ALS。结论：我们的发现，结合其他收集的结果，使不相关的ALS患者的突变总数达到17个，进一步表明TARDBP基因突变在ALS的发病机制中起重要作用。
Aims and background: Mutations in the TARDBP gene, which encodes the TAR DNA binding protein (TDP-43), have been described in individuals with familial and sporadic amyotrophic lateral sclerosis (ALS). We screened the TARDBP gene in 285 French sporadic ALS patients to assess the frequency of TARDBP mutations in ALS.Results: Six individuals had potentially deleterious mutations of which three were novel including a Y374X truncating mutation and P363A and A382P missense mutations. This suggests that TARDBP mutations may predispose to ALS in approximately 2% of the individuals followed in this study.Conclusion: Our findings, combined with those from other collections, brings the total number of mutations in unrelated ALS patients to 17, further suggesting that mutations in the TARDBP gene have an important role in the pathogenesis of ALS.