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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Guerini, Franca R. Bolognesi, Elisabetta Chiappedi, Matteo Manca, Salvatorica Ghezzo, Alessandro Agliardi, Cristina Sotgiu, Stefano Usai, Sonia Matteoli, Michela Clerici, Mario |
| Description | Country affiliation: Italy Author Affiliation: Guerini FR ( Don C. Gnocchi Foundation ONLUS, P. le Morandi 6, 20121 Milano, Italy. fguerini@dongnocchi.it) |
| Abstract | Synaptosomal-associated protein of 25kD (SNAP-25), a protein participating in the regulation of synaptic vesicle exocytosis and in calcium homeostasis, was recently involved in neuropsychiatric conditions. Because alterations affecting the homeostasis of calcium are described in patients affected by autism spectrum disorders (ASD) we investigated a possible involvement of SNAP-25 in ASD by evaluating five SNAP-25 gene polymorphisms in a cohort of 67 ASD children. Data analyzed in relationship with clinical outcomes and compared to those of 205 healthy sex-matched children did not reveal significant differences. Further analyses nevertheless showed the presence of highly significant associations of the rs363043 (CT) genotype, localized in the intron 1 region that affects the transcription factor binding sites of the SNAP-25 gene, with both increasing CARS (p=0.001) and hyperactivity scores (p=0.006). The finding that polymorphisms of the SNAP-25 gene, a gene involved in neurotransmission and regulation of calcium homeostasis, are associated with the degree of hyperactivity in children with ASD, reinforces the hypothesis that alterations of these mechanisms play a pivotal role in the events leading to ASD-associated behavioral impairment. Modulation of these processes could result in novel therapeutic strategies. |
| File Format | HTM / HTML |
| ISSN | 10436618 |
| Issue Number | 3 |
| Volume Number | 64 |
| e-ISSN | 10961186 |
| Journal | Pharmacological Research |
| Language | English |
| Publisher | Elsevier |
| Publisher Date | 2011-09-01 |
| Publisher Place | Netherlands |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | Discipline Pharmacology Child Development Disorders, Pervasive Genetics Polymorphism, Single Nucleotide Synaptosomal-associated Protein 25 Adolescent Calcium Metabolism Child Cohort Studies Female Humans Male Journal Article Research Support, Non-u.s. Gov't |
| Content Type | Text |
| Resource Type | Article |
| Subject | Pharmacology |
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