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.

Mutational analysis of VCP gene in familial Amyotrophic Lateral Sclerosis / C. Tiloca, A. Ratti, V. Pensato, A. Castucci, G. Sorarù, R. Del Bo, L. Corrado, C. Cereda, C. D'Ascenzo, G.P. Comi, L. Mazzini, B. Castellotti, N. Ticozzi, C. Gellera, V. Silani. - In: NEUROBIOLOGY OF AGING. - ISSN 0197-4580. - 33:3(2012), pp. 630.e1-630.e2. [10.1016/j.neurobiolaging.2011.10.025]

Mutational analysis of VCP gene in familial Amyotrophic Lateral Sclerosis

A. Ratti
Secondo
;
G.P. Comi;N. Ticozzi
Primo
;
V. Silani
2012

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.
ALS (Amyotrophic lateral sclerosis); VCP (valosin-containing protein); Genetics
Settore MED/26 - Neurologia
Settore BIO/18 - Genetica
2012
Article (author)
File in questo prodotto:
File Dimensione Formato  
Tiloca C Neurobiology of Aging 2012.pdf

accesso riservato

Tipologia: Publisher's version/PDF
Dimensione 334.63 kB
Formato Adobe PDF
334.63 kB Adobe PDF   Visualizza/Apri   Richiedi una copia
Pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/174322
Citazioni
  • ???jsp.display-item.citation.pmc??? 6
  • Scopus 15
  • ???jsp.display-item.citation.isi??? 6
social impact