UBQLN2 mutations are rare in French and French-Canadian amyotrophic lateral sclerosis

被引：31

作者：

Daoud, Hussein ^{[1
,2
]}

Suhail, Hamid ^{[1
,2
]}

Szuto, Anna ^{[1
,2
]}

Camu, William ^{[3
]}

Salachas, Francois ^{[4
]}

Meininger, Vincent ^{[4
]}

Bouchard, Jean-Pierre ^{[5
]}

Dupre, Nicolas ^{[5
]}

Dion, Patrick A. ^{[1
,2
,6
]}

Rouleau, Guy A. ^{[1
,2
]}

机构：

[1] Univ Montreal CENUM, Ctr Excellence Neurosci, CHUM Res Ctr, Montreal, PQ, Canada

[2] Dept Med, Montreal, PQ, Canada

[3] CHU Montpellier, Dept Neurol, INSERM, ALS Ctr,UMR 1051, Montpellier, France

[4] Hop La Pitie Salpetriere, Federat Malad Syst Nerveux, Ctr Reference Malad Rares SLA, Paris, France

[5] Univ Quebec, Fac Med, Univ Laval, Enfant Jesus Hosp,Ctr Hosp, Quebec City, PQ, Canada

[6] Univ Montreal, Fac Med, Dept Pathol & Cell Biol, Montreal, PQ H2L 2W5, Canada

来源：

NEUROBIOLOGY OF AGING | 2012年 / 33卷 / 09期

关键词：

UBQLN2; ALS; Dementia; FRONTOTEMPORAL LOBAR DEGENERATION; HEXANUCLEOTIDE REPEAT; C9ORF72; ALS; NEURODEGENERATION; EXPANSION; GENE; FTD;

D O I：

10.1016/j.neurobiolaging.2012.03.015

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：

Mutations in the UBQLN2 gene, which encodes a member of the ubiquitin-like protein family (ubiquilin-2), have been recently identified in patients with dominant X-linked amyotrophic lateral sclerosis (ALS) and ALS with dementia. We report here the sequencing of the UBQLN2 gene in 590 ALS patients of French and French-Canadian ancestry. We identified two novel missense mutations (p.S155N and p.P189T) in two individuals with sporadic ALS. Bioinformatic analysis predicts that these missense mutations affect the normal protein's function. Importantly, these findings further highlight the importance of the proline residues located in the conserved domains of the ubiquilin-2 protein, suggesting that mutations affecting these residues are particularly relevant to the development of ALS. Our findings further support a causative role of the UBQLN2 gene in the pathogenesis of ALS and suggest that UBQLN2 mutations are rare in the French and French-Canadian population. (C) 2012 Elsevier Inc. All rights reserved.

引用

页码：2230.e1 / 2230.e5

页数：5

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