A Drosophila model of GSS syndrome suggests defects in active zones are responsible for pathogenesis of GSS syndrome

Hum Mol Genet. 2010 Nov 15;19(22):4474-89. doi: 10.1093/hmg/ddq379. Epub 2010 Sep 9.

Abstract

We have established a Drosophila model of Gerstmann-Sträussler-Scheinker (GSS) syndrome by expressing mouse prion protein (PrP) having leucine substitution at residue 101 (MoPrP(P101L)). Flies expressing MoPrP(P101L), but not wild-type MoPrP (MoPrP(3F4)), showed severe defects in climbing ability and early death. Expressed MoPrP(P101L) in Drosophila was differentially glycosylated, localized at the synaptic terminals and mainly present as deposits in adult brains. We found that behavioral defects and early death of MoPrP(P101L) flies were not due to Caspase 3-dependent programmed cell death signaling. In addition, we found that Type 1 glutamatergic synaptic boutons in larval neuromuscular junctions of MoPrP(P101L) flies showed significantly increased numbers of satellite synaptic boutons. Furthermore, the amount of Bruchpilot and Discs large in MoPrP(P101L) flies was significantly reduced. Brains from scrapie-infected mice showed significantly decreased ELKS, an active zone matrix marker compared with those of age-matched control mice. Thus, altered active zone structures at the molecular level may be involved in the pathogenesis of GSS syndrome in Drosophila and scrapie-infected mice.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Brain / metabolism
  • Brain / pathology
  • Disease Models, Animal*
  • Drosophila*
  • Female
  • Gerstmann-Straussler-Scheinker Disease / genetics*
  • Gerstmann-Straussler-Scheinker Disease / metabolism
  • Gerstmann-Straussler-Scheinker Disease / pathology
  • Humans
  • Mice
  • Mice, Inbred C57BL
  • Mice, Transgenic
  • Prion Proteins
  • Prions / genetics*
  • Prions / metabolism

Substances

  • Prion Proteins
  • Prions
  • Prnp protein, mouse