散发性和家族性肌萎缩侧索硬化症患者的TARDBP突变

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.

作者信息

Kabashi Edor, Valdmanis Paul N, Dion Patrick, Spiegelman Dan, McConkey Brendan J, Vande Velde Christine, Bouchard Jean-Pierre, Lacomblez Lucette, Pochigaeva Ksenia, Salachas Francois, Pradat Pierre-Francois, Camu William, Meininger Vincent, Dupre Nicolas, Rouleau Guy A

机构信息

Center of Excellence in Neuromics, Centre Hospitalier de l'Universite de Montreal, and Department of Medicine, University of Montreal, Montreal, Quebec H2L4MI, Canada.

出版信息

Nat Genet. 2008 May;40(5):572-4. doi: 10.1038/ng.132. Epub 2008 Mar 30.

DOI:10.1038/ng.132

PMID:18372902

Abstract

Recently, TDP-43 was identified as a key component of ubiquitinated aggregates in amyotrophic lateral sclerosis (ALS), an adult-onset neurological disorder that leads to the degeneration of motor neurons. Here we report eight missense mutations in nine individuals--six from individuals with sporadic ALS (SALS) and three from those with familial ALS (FALS)--and a concurring increase of a smaller TDP-43 product. These findings further corroborate that TDP-43 is involved in ALS pathogenesis.

摘要

最近，TDP-43被确定为肌萎缩侧索硬化症（ALS）中泛素化聚集体的关键成分，ALS是一种成人发病的神经疾病，可导致运动神经元退化。在此我们报告了9名个体中的8个错义突变——6个来自散发性ALS（SALS）个体，3个来自家族性ALS（FALS）个体——以及一种较小的TDP-43产物同时增加。这些发现进一步证实TDP-43参与了ALS的发病机制。