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Sci Rep. 2017 Nov 15;7(1):15637. doi: 10.1038/s41598-017-15778-8.

Differential overexpression of SERPINA3 in human prion diseases.

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Laboratory of Prion Biology, Department of Neuroscience, SISSA, Trieste, Italy.
Neurology and Neuropathology Unit, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy.
Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, and CNRS UMR 7225, and ICM, Paris, France.
Atomic Energy Commission (CEA), DRF, Jacob, SEPIA, Fontenay-aux-Roses, France.
Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
National CJD Research & Surveillance Unit, Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, UK.
Institute of Neuropathology, Bellvitge University Hospital, IDIBELL; Department of Pathology and Experimental Therapeutics, University of Barcelona; CIBERNED; Hospitalet de Llobregat, Llobregat, Spain.
Institute of Neurology, Medical University of Vienna, Vienna, Austria.
Laboratory of Prion Biology, Department of Neuroscience, SISSA, Trieste, Italy.


Prion 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-Sträussler-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.

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