RT Journal Article
T1 Generation of a new infectious recombinant prion: a model to understand Gerstmann-Straussler-Scheinker syndrome
A1 Elezgarai, Saioa R.
A1 Fernández Borges, Natalia
A1 Eraña, Hasier
A1 Sevillano Mantas, Alejandro Manuel
A1 Charco, Jorge M.
A1 Harrathi, Chafik
A1 Saá, Paula
A1 Gil, David
A1 Kong, Qingzhong
A1 Rodríguez Requena, Jesús
A1 Andréoletti, Olivier
A1 Castilla, Joaquín
AB Human transmissible spongiform encephalopathies (TSEs) or prion diseases are a group of fatalneurodegenerative disorders that include Kuru, Creutzfeldt-Jakob disease, Gerstmann-SträusslerScheinker syndrome (GSS), and fatal familial insomnia. GSS is a genetically determined TSE causedby a range of mutations within the prion protein (PrP) gene. Several animal models, based on theexpression of PrPs carrying mutations analogous to human heritable prion diseases, support thatmutations might predispose PrP to spontaneously misfold. An adapted Protein Misfolding CyclicAmplification methodology based on the use of human recombinant PrP (recPMCA) generated differentself-propagating misfolded proteins spontaneously. These were characterized biochemically andstructurally, and the one partially sharing some of the GSS PrPSc molecular features was inoculatedinto different animal models showing high infectivity. This constitutes an infectious recombinantprion which could be an invaluable model for understanding GSS. Moreover, this study proves thepossibility to generate recombinant versions of other human prion diseases that could provide a furtherunderstanding on the molecular features of these devastating disorders.
PB Nature Publishing Group
YR 2017
FD 2017
LK http://hdl.handle.net/10347/22917
UL http://hdl.handle.net/10347/22917
LA eng
NO Elezgarai, S.R., Fernández-Borges, N., Eraña, H. et al. Generation of a new infectious recombinant prion: a model to understand Gerstmann–Sträussler–Scheinker syndrome. Sci Rep 7, 9584 (2017). https://doi.org/10.1038/s41598-017-09489-3
NO This work was supported financially by Spanish government grants AGL2015-65046-C2-1-R, PCIN-2013-065 and BFU2013-48436-C2-1-P and Basque government grant 2014111157
DS Minerva
RD 24 abr 2026