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

Veronica Redaelli, Edoardo Bistaffa, Gianluigi Zanusso, Giulia Salzano, Luca Sacchetto, Martina Rossi, Chiara Maria Giulia De Luca, Michele Di Bari, Sara Maria Portaleone, Umberto Agrimi, Giuseppe Legname, Ignazio Roiter, Gianluigi Forloni, Fabrizio Tagliavini, Fabio Moda

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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 × 10-14 g/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%.

Original languageEnglish
Pages (from-to)46269
JournalScientific Reports
Volume7
DOIs
Publication statusPublished - Apr 7 2017

ASJC Scopus subject areas

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    Redaelli, V., Bistaffa, E., Zanusso, G., Salzano, G., Sacchetto, L., Rossi, M., De Luca, C. M. G., Di Bari, M., Portaleone, S. M., Agrimi, U., Legname, G., Roiter, I., Forloni, G., Tagliavini, F., & Moda, F. (2017). Detection of prion seeding activity in the olfactory mucosa of patients with Fatal Familial Insomnia. Scientific Reports, 7, 46269. https://doi.org/10.1038/srep46269