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Sporadic ALS is not associated with VAPB gene mutations in Southern Italy

Sporadic ALS is not associated with VAPB gene mutations in Southern Italy

Authors :
Paola Valentino
Angela Magariello
A. L. Gabriele
Teresa Sprovieri
Francesca Luisa Conforti
Alessandro Tessitore
Carmine Ungaro
Aldo Quattrone
Alessandra Patitucci
G. Majorana
Rosalucia Mazzei
Maria Muglia
Vincenzo Labella
Maria Rosaria Monsurrò
Isabella Laura Simone
Gioacchino Tedeschi
Conforti, Fl
Sprovieri, T
Mazzei, R
Ungaro, C
Tessitore, Alessandro
Tedeschi, Gioacchino
Patitucci, A
Magariello, A
Gabriele, A
Labella, V
Simone, Il
Majorana, G
Monsurro', Maria Rosaria
Valentino, P
Muglia, M
Quattrone, A.
FL CONFORTI
T SPROVIERI
L MAZZEI
C UNGANO
A TESSITORE
G TEDESCHI
A PATINUCCI
A MAGARIELLO
A GABRIELE
LA BELLA V
IL SIMONE
G MAJORANA
MR MONSURR
VALENTINO
MMUGLIA
A QUATTRONE
Source :
Journal of negative results in biomedicine 29 (2006): 5–7., info:cnr-pdr/source/autori:Conforti FL, Sprovieri T, Mazzei R, Ungaro C, Tessitore A, Tedeschi G, Patitucci A, Magariello A, Gabriele AL, Labella V, Simone IL, Majorana G, Monsurro MR, Valentino P, Muglia M, Quattrone A./titolo:Sporadic ALS is not associated with VAPB gene mutations in Southern Italy./doi:/rivista:Journal of negative results in biomedicine/anno:2006/pagina_da:5/pagina_a:7/intervallo_pagine:5–7/volume:29, Journal of Negative Results in Biomedicine
Publication Year :
2006
Publisher :
Springer Science and Business Media LLC, 2006.

Abstract

Mutations in the Cu/Zn superoxide dismutase (Sod1) gene have been reported to cause adult-onset autosomal dominant Amyotrophic Lateral Sclerosis (FALS). In sporadic cases (SALS) de novo mutations in the Sod1 gene have occasionally been observed. The recent finding of a mutation in the VAMP/synaptobrevin-associated membrane protein B (VAPB) gene as the cause of amyotrophic lateral sclerosis (ALS8), prompted us to investigate the entire coding region of this gene in SALS patients. One hundred twenty-five unrelated patients with adult-onset ALS and 150 healthy sex-age-matched subjects with the same genetic background were analyzed. Genetic analysis for all exons of the VAPB gene by DHPLC revealed 5 variant profiles in 83 out of 125 SALS patients. Direct sequencing of these PCR products revealed 3 nucleotide substitutions. Two of these were found within intron 3 of the gene, harbouring 4 variant DHPLC profiles. The third nucleotide variation (Asp130Glu) was the only substitution present in the coding region of the VAPB gene, and it occurred within exon 4. It was found in three patients out of 125. The frequency of the detected exon variation in the VAPB gene was not significantly different between patients and controls. In conclusion, our study suggests that VAPB mutations are not a common cause of adult-onset SALS.

Details

ISSN :
14775751
Volume :
5
Database :
OpenAIRE
Journal :
Journal of Negative Results in BioMedicine
Accession number :
edsair.doi.dedup.....5973b1018cfb1a615591563d445cfb83
Full Text :
https://doi.org/10.1186/1477-5751-5-7