S. Vasto, D. Nuzzo, F. Listì, C.R. Balistreri, D. Di Carlo, V. Ditta, M.P. Grimaldi, D. Lio, C. Franceschi, G. Candore, C. Caruso

Alzheimer disease is the most common form of dementia with complex aetiology and multifactorial origin. In the brain of Alzheimer patients there same common features like: β/A4 (APP) precipitation, tau phosphorylation, spindle and network formation, and degeneration of colinergic neurons in the basal fore brain. The nicotinic achetilcolinic receptor (nAChR) belongs to the superfamily of ionic channel activated by ligand. These proteins have pentameric trans-membrane structure with either effector either receptor function. In the central nervous system (SNC) the most abundant receptors are constitute by heterodymeric α4β2. Several studies associated nAChR α4 subunit mutation with Alzheimer disease (AD), as well as other neurological diseases characterized by behavioural and cognitive impairment. Several studies showed that these kinds of pathology correlate to catecholamine pathway which is influenced by neurotrasmettitors like Ach. To understand if nAChR C594T polymorphism might influence the susceptibility to AD, we analyzed by PCR-SSP the 594C/T polymorphism in 2 cohorts constituted by controls and AD patients. Our results showed a significant increase of 594T SNP in AD patients resulting from both an increase of 594C/T and 594T/T genotypes in AD patients versus controls. Further studies are necessary to confirm this polymorphism trend and to establish the polymorphism functionality and its correlation with behavioural and cognitive deficit.

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Alzheimer disease