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

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 PrPSc in the brain. Here, for the first time, we demonstrate that the olfactory mucosa (OM) of patients with FFI contains trace amount of PrPSc detectable by PMCA and RT-QuIC. Quantitative PMCA analysis estimated a PrPSc concentration of about 1 × 10-14 g/ml. In contrast, PrPSc 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 PrPSc oligomer/molecule with a specificity of 100%.

journal_name

Sci Rep

journal_title

Scientific reports

authors

Redaelli V,Bistaffa E,Zanusso G,Salzano G,Sacchetto L,Rossi M,De Luca CM,Di Bari M,Portaleone SM,Agrimi U,Legname G,Roiter I,Forloni G,Tagliavini F,Moda F

doi

10.1038/srep46269

subject

Has Abstract

pub_date

2017-04-07 00:00:00

pages

46269

issn

2045-2322

pii

srep46269

journal_volume

7

pub_type

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