Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis

被引：2

作者：

Belzil, Veronique V. ^{[1
]}

Andre-Guimont, Catherine ^{[1
]}

Atallah, Marie-Renee ^{[1
]}

Daoud, Hussein ^{[1
]}

Dupre, Nicolas ^{[2
]}

Bouchard, Jean-Pierre ^{[2
]}

Camu, William ^{[3
]}

Dion, Patrick A. ^{[1
,4
]}

Rouleau, Guy A. ^{[1
,5
,6
]}

机构：

[1] Univ Montreal, CHUM Res Ctr, Ctr Excellence Neurosci, Montreal, PQ H2L 4M1, Canada

[2] Univ Laval, Fac Med, CHA Enfant Jesus Hosp, Quebec City, PQ G1J 1Z4, Canada

[3] CHU Gui de Chauliac, Dept Neurol, ALS Ctr, Montpellier, France

[4] Univ Montreal, Fac Med, Dept Pathol & Cellular Biol, Montreal, PQ H3C 3J7, Canada

[5] Univ Montreal, Fac Med, Dept Med, Montreal, PQ H3C 3J7, Canada

[6] Univ Montreal, CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, Canada

来源：

NEUROBIOLOGY OF AGING | 2012年 / 33卷 / 08期

基金：

加拿大健康研究院;

关键词：

Genetics; Neuromuscular disease; Amyotrophic lateral sclerosis; MUTATIONS; PROTEIN; PROGRANULIN; TDP-43; FUS;

D O I：

10.1016/j.neurobiolaging.2012.01.011

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

Background: Substantial efforts have been deployed in the past decade to identify the genetic causes of amyotrophic lateral sclerosis (ALS), and we hypothesized here that mutations in SORT1 or aberrant SORT1 splicing reduce progranulin level and promote neurodegeneration. Methods: We sequenced the coding exons of SORT1 in a cohort of 112 unrelated individuals with familial ALS. We also tested for aberrant SORT1 splicing by RT-PCR using RNA samples from cell lines expressing six different ALS-associated TARDBP mutations. Results: We identified one unique missense and two unique silent mutations in our cohort. None are predicted to have functional effects. No aberrant SORT1 splicing event was observed. Conclusions: SORT1 mutations are not a common cause of familial ALS, and the influence of TARDBP mutations on SORT1 splicing still needs to be clarified. (C) 2012 Elsevier Inc. All rights reserved.

引用

页码：1845.e7 / 1845.e9

页数：3

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