Open Access Brief report

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

Francesca Luisa Conforti1, Teresa Sprovieri1, Rosalucia Mazzei1, Carmine Ungaro1, Alessandro Tessitore2, Gioacchino Tedeschi2, Alessandra Patitucci1, Angela Magariello1, AnnaLia Gabriele1, Vincenzo Labella3, Isabella Laura Simone4, Giovanni Majorana5, Maria Rosaria Monsurrò2, Paola Valentino6, Maria Muglia1 and Aldo Quattrone16*

Author Affiliations

1 Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy

2 Second Division of Neurology, Second University of Naples, Naples, Italy

3 Department of Neurology and Psychiatry, University of Palermo, Palermo, Italy

4 Department of Neurological and Psychiatric Sciences, University of Bari, Bari, Italy

5 Department of Neurosciences, Psychiatric and Anaesthesiological Sciences, University of Messina, Messina, Italy

6 Institute of Neurology, University Magna Graecia, Catanzaro, Italy

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Journal of Negative Results in BioMedicine 2006, 5:7  doi:10.1186/1477-5751-5-7

Published: 29 May 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.