Generation of a new infectious recombinant prion: a model to understand Gerstmann-Sträussler-Scheinker syndrome

Sci Rep. 2017 Aug 29;7(1):9584. doi: 10.1038/s41598-017-09489-3.

Abstract

Human transmissible spongiform encephalopathies (TSEs) or prion diseases are a group of fatal neurodegenerative disorders that include Kuru, Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker syndrome (GSS), and fatal familial insomnia. GSS is a genetically determined TSE caused by a range of mutations within the prion protein (PrP) gene. Several animal models, based on the expression of PrPs carrying mutations analogous to human heritable prion diseases, support that mutations might predispose PrP to spontaneously misfold. An adapted Protein Misfolding Cyclic Amplification methodology based on the use of human recombinant PrP (recPMCA) generated different self-propagating misfolded proteins spontaneously. These were characterized biochemically and structurally, and the one partially sharing some of the GSS PrPSc molecular features was inoculated into different animal models showing high infectivity. This constitutes an infectious recombinant prion which could be an invaluable model for understanding GSS. Moreover, this study proves the possibility to generate recombinant versions of other human prion diseases that could provide a further understanding on the molecular features of these devastating disorders.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Animals
  • Disease Models, Animal
  • Evolution, Molecular
  • Gerstmann-Straussler-Scheinker Disease / etiology*
  • Gerstmann-Straussler-Scheinker Disease / metabolism
  • Gerstmann-Straussler-Scheinker Disease / pathology
  • Humans
  • Mice
  • Mice, Transgenic
  • Mutation
  • Prion Proteins / chemistry
  • Prion Proteins / genetics*
  • Prion Proteins / metabolism
  • Protein Aggregates
  • Protein Aggregation, Pathological
  • Protein Conformation
  • Protein Folding
  • Recombination, Genetic*
  • Selection, Genetic

Substances

  • Prion Proteins
  • Protein Aggregates