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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
- 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.
- Subjects :
- Adult
Male
SOD1
Vesicular Transport Proteins
Glutamic Acid
Biology
Gene mutation
medicine.disease_cause
Genetic analysis
General Biochemistry, Genetics and Molecular Biology
Pharmacology, Toxicology and Pharmaceutics(all)
03 medical and health sciences
Exon
0302 clinical medicine
Gene Frequency
medicine
Humans
Coding region
General Pharmacology, Toxicology and Pharmaceutics
Gene
Aged
030304 developmental biology
Medicine(all)
Aged, 80 and over
Genetics
Aspartic Acid
0303 health sciences
Mutation
Base Sequence
Biochemistry, Genetics and Molecular Biology(all)
Brief Report
Amyotrophic Lateral Sclerosis
Genetic Variation
Exons
General Medicine
Middle Aged
VAPB
Molecular biology
Introns
3. Good health
Amino Acid Substitution
Italy
Case-Control Studies
Female
030217 neurology & neurosurgery
Subjects
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