Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis

被引：15

作者：

Tiloca, Cinzia ^{[1
,2
]}

Ratti, Antonia ^{[1
,2
,3
]}

Pensato, Viviana ^{[4
]}

Castucci, Alessia ^{[4
]}

Soraru, Gianni ^{[5
]}

Del Bo, Roberto ^{[3
,6
]}

Corrado, Lucia ^{[7
]}

Cereda, Cristina ^{[8
]}

D'Ascenzo, Carla ^{[5
]}

Comi, Giacomo P. ^{[3
,6
]}

Mazzini, Letizia ^{[9
,10
]}

Castellotti, Barbara ^{[4
]}

Ticozzi, Nicola ^{[1
,2
]}

Gellera, Cinzia ^{[4
]}

Silani, Vincenzo ^{[1
,2
,3
]}

机构：

[1] IRCCS, Ist Auxol Italiano, Dept Neurol, I-20149 Milan, Italy

[2] IRCCS, Ist Auxol Italiano, Neurosci Lab, I-20149 Milan, Italy

[3] Univ Milan, Dino Ferrari Ctr, Dept Neurol Sci, Milan, Italy

[4] Fdn IRCCS Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy

[5] Univ Padua, Dept Neurosci, Padua, Italy

[6] Osped Maggiore Policlin, IRCCS Fdn Ca Granda, Milan, Italy

[7] A Avogadro Univ, Interdisciplinary Res Ctr Autoimmune Dis, Dept Med Sci, Novara, Italy

[8] Natl Neurol Inst C Mondino, IRCCS, Lab Expt Neurobiol, Pavia, Italy

[9] A Avogadro Univ, Dept Neurol, Novara, Italy

[10] Maggiore Carita Hosp, Novara, Italy

来源：

NEUROBIOLOGY OF AGING | 2012年 / 33卷 / 03期

关键词：

ALS (Amyotrophic lateral sclerosis); VCP (valosin-containing protein); Genetics;

D O I：

10.1016/j.neurobiolaging.2011.10.025

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 valosin-containing protein (VCP) gene, already known to be associated with the multisystemic disorder, inclusion body myopathy with Paget's disease and frontotemporal dementia (IBMPFD), have been recently found also in familial cases of amyotrophic lateral sclerosis (ALS). To further define the frequency of VCP mutations in ALS Italian population, we screened a cohort of 166 familial ALS and 14 ALS-frontotemporal dementia (FTD) individuals. We identified a previously reported synonymous mutation (c.2093A>C; p.Q568Q), 2 intronic variants (c.1749-14C>T; c.2085-3C>T), and 1 nucleotide change (c.2814G>T) in the 3' untranslated region (UTR). Bioinformatical analyses predicted no changes in splicing process or microRNA binding sites. Our results do not confirm a main contribution of VCP gene to familial ALS in the Italian population. (C) 2012 Elsevier Inc. All rights reserved.

引用

页数：2

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