Phenotypic heterogeneity in inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and mutant prion protein

Brain. 2006 Jun;129(Pt 6):1557-69. doi: 10.1093/brain/awl076. Epub 2006 Apr 5.

Abstract

Inherited prion diseases are caused by PRNP coding mutations and display marked phenotypic heterogeneity within families segregating the same pathogenic mutation. A proline-to-leucine substitution at prion protein (PrP) residue 102 (P102L), classically associated with the Gerstmann-Sträussler-Scheinker (GSS) phenotype, also shows marked clinical and pathological heterogeneity, including patients with a Creutzfeldt-Jakob disease (CJD) phenotype. To date, this heterogeneity has been attributed to temporal and spatial variance in the propagation of distinct protease-resistant (PrP(Sc)) isoforms of mutant PrP. Here, using a monoclonal antibody that recognizes wild-type PrP, but not PrP 102L, we reveal a spectrum of involvement of wild-type PrP(Sc) in P102L individuals. PrP(Sc) isoforms derived from wild-type and mutant PrP are distinct both from each other and from those seen in sporadic and acquired CJD. Such differential propagation of disease-related isoforms of wild-type PrP and PrP 102L provides a molecular mechanism for generation of the multiple clinicopathological phenotypes seen in inherited prion disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Animals
  • Antibodies, Monoclonal / immunology
  • Brain / metabolism
  • Brain / pathology
  • Enzyme-Linked Immunosorbent Assay / methods
  • Humans
  • Mice
  • Mice, Transgenic
  • Microscopy, Confocal
  • Middle Aged
  • Mutant Proteins / analysis*
  • Mutant Proteins / immunology
  • Mutation
  • Peptide Hydrolases
  • Phenotype
  • Prion Diseases / genetics*
  • Prion Diseases / metabolism
  • Prion Diseases / pathology
  • Prion Diseases / transmission
  • Prions / analysis
  • Prions / genetics*
  • Prions / immunology
  • Protein Isoforms / genetics
  • Protein Isoforms / immunology

Substances

  • Antibodies, Monoclonal
  • Mutant Proteins
  • Prions
  • Protein Isoforms
  • Peptide Hydrolases