Fatal Familial Insomnia (FFI) is a genetic prion disease caused by a point mutation in the prion protein gene (PRNP) characterized by prominent thalamic atrophy, diffuse astrogliosis and moderate deposition of PrP Sc in the brain. Here, for the first time, we demonstrate that the olfactory mucosa (OM) of patients with FFI contains trace amount of PrP Sc detectable by PMCA and RT-QuIC. Quantitative PMCA analysis estimated a PrP Sc concentration of about 1 × 10-14g/ml. In contrast, PrP Sc was not detected in OM samples from healthy controls and patients affected by other neurodegenerative disorders, including Alzheimer's disease, Parkinson's disease and frontotemporal dementia. These results indicate that the detection limit of these assays is in the order of a single PrP Sc oligomer/molecule with a specificity of 100%.

Detection of prion seeding activity in the olfactory mucosa of patients with Fatal Familial Insomnia / Redaelli, Veronica; Bistaffa, Edoardo; Zanusso, Gianluigi; Salzano, Giulia; Sacchetto, Luca; Rossi, Martina; De Luca, Chiara Maria Giulia; Di Bari, Michele; Portaleone, Sara Maria; Agrimi, Umberto; Legname, Giuseppe; Roiter, Ignazio; Forloni, Gianluigi; Tagliavini, Fabrizio; Moda, Fabio. - In: SCIENTIFIC REPORTS. - ISSN 2045-2322. - 7:(2017), pp. 1-8. [10.1038/srep46269]

Detection of prion seeding activity in the olfactory mucosa of patients with Fatal Familial Insomnia

Bistaffa, Edoardo;Zanusso, Gianluigi;Salzano, Giulia;Rossi, Martina;Legname, Giuseppe
Membro del Collaboration group
;
Forloni, Gianluigi;Moda, Fabio
2017-01-01

Abstract

Fatal Familial Insomnia (FFI) is a genetic prion disease caused by a point mutation in the prion protein gene (PRNP) characterized by prominent thalamic atrophy, diffuse astrogliosis and moderate deposition of PrP Sc in the brain. Here, for the first time, we demonstrate that the olfactory mucosa (OM) of patients with FFI contains trace amount of PrP Sc detectable by PMCA and RT-QuIC. Quantitative PMCA analysis estimated a PrP Sc concentration of about 1 × 10-14g/ml. In contrast, PrP Sc was not detected in OM samples from healthy controls and patients affected by other neurodegenerative disorders, including Alzheimer's disease, Parkinson's disease and frontotemporal dementia. These results indicate that the detection limit of these assays is in the order of a single PrP Sc oligomer/molecule with a specificity of 100%.
2017
7
1
8
46269
www.nature.com/srep/index.html
Redaelli, Veronica; Bistaffa, Edoardo; Zanusso, Gianluigi; Salzano, Giulia; Sacchetto, Luca; Rossi, Martina; De Luca, Chiara Maria Giulia; Di Bari, Michele; Portaleone, Sara Maria; Agrimi, Umberto; Legname, Giuseppe; Roiter, Ignazio; Forloni, Gianluigi; Tagliavini, Fabrizio; Moda, Fabio
File in questo prodotto:
File Dimensione Formato  
srep46269.pdf

accesso aperto

Tipologia: Versione Editoriale (PDF)
Licenza: Creative commons
Dimensione 768.64 kB
Formato Adobe PDF
768.64 kB Adobe PDF Visualizza/Apri
srep46269-s1.pdf

accesso aperto

Descrizione: Supplementary information
Tipologia: Altro materiale allegato
Licenza: Creative commons
Dimensione 431.34 kB
Formato Adobe PDF
431.34 kB Adobe PDF Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.11767/68124
Citazioni
  • ???jsp.display-item.citation.pmc??? 22
  • Scopus 40
  • ???jsp.display-item.citation.isi??? 34
social impact