Cross-sequence transmission of sporadic Creutzfeldt-Jakob disease creates a new prion strain

J Biol Chem. 2007 Oct 12;282(41):30022-8. doi: 10.1074/jbc.M704597200. Epub 2007 Aug 20.

Abstract

The genotype (methionine or valine) at polymorphic codon 129 of the human prion protein (PrP) gene and the type (type 1 or type 2) of abnormal isoform of PrP (PrP(Sc)) are major determinants of the clinicopathological phenotypes of sporadic Creutzfeldt-Jakob disease (sCJD). Here we found that the transmission of sCJD prions from a patient with valine homozygosity (129V/V) and type 2 PrP(Sc) (sCJD-VV2 prions) to mice expressing human PrP with methionine homozygosity (129M/M) generated unusual PrP(Sc) intermediate in size between type 1 and type 2. The intermediate type PrP(Sc) was seen in all examined dura mater graft-associated CJD cases with 129M/M and plaque-type PrP deposits (p-dCJD). p-dCJD prions and sCJD-VV2 prions exhibited similar transmissibility and neuropathology, and the identical type of PrP(Sc) when inoculated into PrP-humanized mice with 129M/M or 129V/V. These findings suggest that p-dCJD could be caused by cross-sequence transmission of sCJD-VV2 prions.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Autopsy
  • Brain / metabolism
  • Codon
  • Creutzfeldt-Jakob Syndrome / diagnosis*
  • Creutzfeldt-Jakob Syndrome / genetics*
  • Genotype
  • Homozygote
  • Humans
  • Mice
  • Mice, Knockout
  • Mice, Transgenic
  • Prions / chemistry*
  • Prions / metabolism
  • Protein Isoforms
  • Valine / chemistry

Substances

  • Codon
  • Prions
  • Protein Isoforms
  • Valine