Prion protein aggregation reverted by low temperature in transfected cells carrying a prion protein gene mutation

J Biol Chem. 1997 Nov 7;272(45):28461-70. doi: 10.1074/jbc.272.45.28461.

Abstract

Prion diseases are characterized by the conversion of the normal cellular prion protein (PrPC), a glycoprotein that is anchored to the cell membrane by a glycosylphosphatidylinositol moiety, into an isoform that is protease-resistant (PrPres) and pathogenic. In inherited prion diseases, mutations in the prion protein (PrPM) engender the conversion of PrPM into PrPres. We developed a cell model of Gerstmann-Sträussler-Scheinker disease, a neurodegenerative condition characterized by PrPM-containing amyloid deposits and neuronal loss, by expressing the Gerstmann-Sträussler-Scheinker haplotype Q217R-129V in human neuroblastoma cells. By comparison to PrPC, this genotype results in the following alterations of PrPM: 1) expression of an aberrant form lacking the glycosylphosphatidylinositol anchor, 2) increased aggregation and protease resistance, and 3) impaired transport to the cell surface. Most of these alterations are temperature-sensitive, indicating that they are due to misfolding of PrPM.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Cell Membrane / metabolism
  • Cold Temperature
  • Genotype
  • Gerstmann-Straussler-Scheinker Disease / genetics
  • Humans
  • Mutation*
  • Prions / chemistry
  • Prions / genetics*
  • Protein Folding
  • Surface Properties
  • Transfection
  • Tumor Cells, Cultured
  • Type C Phospholipases / metabolism

Substances

  • Prions
  • Type C Phospholipases