Vanni, SilviaModa, FabioZattoni, MarcoBistaffa, E.Cecco, E. DeRossi, MarcelloGiaccone, GiorgioTagliavini, FabrizioHaik, StéphaneDeslys, Jean-PhilippeZanusso, GianluigiIronside, James W.Ferrer, Isidro (Ferrer Abizanda)Kovacs, Gabor G.Legname, Giuseppe2018-07-272018-07-272017-11-15https://hdl.handle.net/2445/124035Prion diseases are fatal neurodegenerative disorders with sporadic, genetic or acquired etiologies. The molecular alterations leading to the onset and the spreading of these diseases are still unknown. In a previous work we identified a five-gene signature able to distinguish intracranially BSE-infected macaques from healthy ones, with SERPINA3 showing the most prominent dysregulation. We analyzed 128 suitable frontal cortex samples, from prion-affected patients (variant Creutzfeldt-Jakob disease (vCJD) n = 20, iatrogenic CJD (iCJD) n = 11, sporadic CJD (sCJD) n = 23, familial CJD (gCJD) n = 17, fatal familial insomnia (FFI) n = 9, Gerstmann-Straussler-Scheinker syndrome (GSS)) n = 4), patients with Alzheimer disease (AD, n = 14) and age-matched controls (n = 30). Real Time-quantitative PCR was performed for SERPINA3 transcript, and ACTB, RPL19, GAPDH and B2M were used as reference genes. We report SERPINA3 to be strongly up-regulated in the brain of all human prion diseases, with only a mild up-regulation in AD. We show that this striking up-regulation, both at the mRNA and at the protein level, is present in all types of human prion diseases analyzed, although to a different extent for each specific disorder. Our data suggest that SERPINA3 may be involved in the pathogenesis and the progression of prion diseases, representing a valid tool for distinguishing different forms of these disorders in humans.13 p.application/pdfengcc by (c) Vanni et al., 2017http://creativecommons.org/licenses/by/3.0/es/Malalties neurodegenerativesEtiologiaMalalties per prionsNeurodegenerative DiseasesEtiologyPrion diseasesinfo:eu-repo/semantics/article2018-07-24info:eu-repo/semantics/openAccess29142239