Effetto di polimorfismi genetici coinvolti nel processo infiammatorio e nel danno ossidativo nella malattia di Alzheimer

Dott. ssa Eliana Venturelli Dottorato in Medicina Molecolare, Ciclo XIX TITOLO: Effetto di polimorfismi genetici coinvolti nel processo infiammatorio e nel danno ossidativo nella malattia di Alzheimer Alzheimer s Disease (AD) is a multifactorial disease caused by both genetic and environmental factors. The aim of this project was to carry out association studies, to detect significant differences in polymorphism frequency in molecules involved in AD pathogenesis, including Nitric Oxide Synthase (NOS) isoforms (NOS3 and NOS1) and IP-10 (CXCL10) gene between patients and age matched healthy controls. ApoE, NOS3 Glu298Asp and T-786C, NOS1 C276T, VNTR and G-84A, were determined by PCR-RFLP and IP-10 exons were sequenced. ApoE e4 allele, NOS3 wild type (Glu/Glu) genotype, NOS1 T/T genotype and VNTR short alleles have been demonstrated to act as a risk factor for AD. On the contrary NOS3 T-786C, NOS1 G-84A and IP-10 did not increase the risk to develop the pathology. In conclusion, our genetic analysis contributed to identify some susceptibility factors for AD. Future perspectives are represented by the possibility to carry out pharmacogenetic studies for identifying responders and non responders.