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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Possible association between SNAP-25 single nucleotide polymorphisms and alterations of categorical fluency and functional MRI parameters in Alzheimer's disease
Journal of Alzheimer's Disease, Volume 42, No. 3, Year 2014
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Description
Synaptosomal-associated protein of 25 kDa (SNAP-25) is an age-regulated vesicular SNARE protein involved in the exocytosis of neurotransmitters from synapses, a process that is altered in Alzheimer's disease (AD). Changes in SNAP-25 levels are suggested to contribute to age-related decline of cognitive function, and single nucleotide polymorphisms (SNPs) in the SNAP-25 gene are present in neuropsychiatric conditions and play a role in determining IQ phenotypes. To verify a possible role of SNAP-25 in AD, we analyzed five gene polymorphisms in patients with AD (n = 607), replicating the study in subjects with amnestic mild cognitive impairment (aMCI) (n = 148) and in two groups of age-matched healthy controls (HC1: n = 615 and HC2: n = 310). Results showed that the intronic rs363050 (A) and rs363043 (T) alleles, as well as the rs363050/rs363043 A-T haplotype are significantly more frequent in AD and aMCI and are associated with pathological scores of categorical fluency in AD. Notably, functional MRI analyses indicated that SNAP-25 genotypes correlate with a significantly decreased brain activity in the cingulate cortex and in the frontal (middle and superior gyri) and the temporo-parietal (angular gyrus) area. SNAP-25 polymorphisms may be associated with AD and correlate with alterations in categorical fluency and a reduced localized brain activity. SNAP-25 polymorphisms could be used as surrogate markers for the diagnosis of AD and of cognitive deficit; these SNPs might also have a possible predictive role in the natural history of AD. © 2014-IOS Press.
Authors & Co-Authors
Guerini, Franca Rosa
Italy, Milan
Fondazione Don Carlo Gnocchi
Agliardi, Cristina
Italy, Milan
Fondazione Don Carlo Gnocchi
Sironi, Manuela
Italy, Bosisio Parini
Irccs Eugenio Medea
Bolognesi, Elisabetta
Italy, Milan
Fondazione Don Carlo Gnocchi
Ricci, Cristian
Italy, Milan
Fondazione Don Carlo Gnocchi
Costa, Andrea Saul
Italy, Milan
Fondazione Don Carlo Gnocchi
Scarpini, Elio Angelo
Italy, Milan
Fondazione Irccs Ca' Granda Ospedale Maggiore Policlinico
Baglio, Francesca
Italy, Milan
Fondazione Don Carlo Gnocchi
Clerici, Mario S.
Italy, Milan
Fondazione Don Carlo Gnocchi
Germany, Regensburg
Universität Regensburg
Statistics
Citations: 27
Authors: 9
Affiliations: 6
Identifiers
Doi:
10.3233/JAD-140057
ISSN:
13872877
Research Areas
Genetics And Genomics