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SNAP-25 single nucleotide polymorphisms are associated with hyperactivity in autism spectrum disorders

Guerini, Franca R. and Bolognesi, Elisabetta and Chiappedi, Matteo and Manca, Salvatorica and Ghezzo, Alessandro and Agliardi, Cristina and Sotgiu, Stefano and Usai, Sonia and Matteoli, Michela and Clerici, Mario Salvatore (2011) SNAP-25 single nucleotide polymorphisms are associated with hyperactivity in autism spectrum disorders. Pharmacological Research, Vol. 64 (3), p. 283-288. eISSN 1096-1186. Article.

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DOI: 10.1016/j.phrs.2011.03.015


Synaptosomal-associated protein of 25 kD (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.

Item Type:Article
ID Code:6096
Uncontrolled Keywords:SNAP-25, single nucleotide polymorphism, autism spectrum disorders, calcium, hyperactivity
Subjects:Area 06 - Scienze mediche > MED/26 Neurologia
Divisions:002 Altri enti e centri di ricerca del Nord Sardegna > Azienda ASL1, Sassari
001 Università di Sassari > 01 Dipartimenti > Neuroscienze, scienze materno infantili
Publisher:Academic Press / Elsevier
Copyright Holders:© 2011 Elsevier
Deposited On:30 May 2011 11:16

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