title: Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis.
abstract: 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.
authors.affiliation: Department of Neurology and Laboratory of Neuroscience, IRCCS, Istituto Auxologico Italiano, Milan, Italy.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Tiloca
authors.forename: Antonia
authors.initials: A
authors.lastname: Ratti
authors.forename: Viviana
authors.initials: V
authors.lastname: Pensato
authors.forename: Alessia
authors.initials: A
authors.lastname: Castucci
authors.forename: Gianni
authors.initials: G
authors.lastname: Sorarù
authors.forename: Roberto
authors.initials: R
authors.lastname: Del Bo
authors.forename: Lucia
authors.initials: L
authors.lastname: Corrado
authors.forename: Cristina
authors.initials: C
authors.lastname: Cereda
authors.forename: Carla
authors.initials: C
authors.lastname: D'Ascenzo
authors.forename: Giacomo P
authors.initials: GP
authors.lastname: Comi
authors.forename: Letizia
authors.initials: L
authors.lastname: Mazzini
authors.forename: Barbara
authors.initials: B
authors.lastname: Castellotti
authors.forename: Nicola
authors.initials: N
authors.lastname: Ticozzi
authors.forename: Cinzia
authors.initials: C
authors.lastname: Gellera
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Silani
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics* / Q000378:metabolism; D017398:Alternative Splicing / Q000235:genetics; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D018797:Cell Cycle Proteins / Q000235:genetics* / Q000378:metabolism; D015331:Cohort Studies; D019295:Computational Biology / Q000379:methods; D004252:DNA Mutational Analysis / Q000379:methods; D005838:Genotype; D006801:Humans; D007558:Italy / Q000453:epidemiology; D035683:MicroRNAs / Q000378:metabolism; D017354:Point Mutation / Q000235:genetics*; D011237:Predictive Value of Tests; D011485:Protein Binding / Q000235:genetics; D000074405:Valosin Containing Protein
chemical_list: D018797:Cell Cycle Proteins; D035683:MicroRNAs; D000251:Adenosine Triphosphatases; C000614178:VCP protein, human; D000074405:Valosin Containing Protein