Spongiform encephalopathy in transgenic mice expressing a point mutation in the β2-α2 loop of the prion protein

J Neurosci. 2011 Sep 28;31(39):13840-7. doi: 10.1523/JNEUROSCI.3504-11.2011.

Abstract

Transmissible spongiform encephalopathies are fatal neurodegenerative diseases attributed to misfolding of the cellular prion protein, PrP(C), into a β-sheet-rich, aggregated isoform, PrP(Sc). We previously found that expression of mouse PrP with the two amino acid substitutions S170N and N174T, which result in high structural order of the β2-α2 loop in the NMR structure at pH 4.5 and 20°C, caused transmissible de novo prion disease in transgenic mice. Here we report that expression of mouse PrP with the single-residue substitution D167S, which also results in a structurally well ordered β2-α2 loop at 20°C, elicits spontaneous PrP aggregation in vivo. Transgenic mice expressing PrP(D167S) developed a progressive encephalopathy characterized by abundant PrP plaque formation, spongiform change, and gliosis. These results add to the evidence that the β2-α2 loop has an important role in intermolecular interactions, including that it may be a key determinant of prion protein aggregation.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution / genetics
  • Animals
  • Female
  • Male
  • Mice
  • Mice, Knockout
  • Mice, Transgenic
  • Point Mutation / genetics*
  • PrPC Proteins / biosynthesis*
  • PrPC Proteins / genetics*
  • PrPC Proteins / physiology
  • Prion Diseases / diagnosis
  • Prion Diseases / genetics*
  • Prion Diseases / metabolism*
  • Protein Structure, Secondary / genetics

Substances

  • PrPC Proteins