An amber mutation of prion protein in Gerstmann-Sträussler syndrome with mutant PrP plaques

Biochem Biophys Res Commun. 1993 Apr 30;192(2):525-31. doi: 10.1006/bbrc.1993.1447.

Abstract

We found an amber mutation in the open reading frame of the prion protein (PrP) gene. The codon 145 mutation (tyrosine to stop) was recognized on a PrP allele of a patient with Alzheimer-type clinical course. Pathologic examination revealed many amyloid plaques and neurofibrillary changes. However, the amyloid plaques in this patient were not composed of beta/A4 protein, but of PrP. Both wild and mutant PrP alleles were detected in the cerebral mRNA; however, only C-terminal truncated PrP was detected in the kuru plaques. We herein present evidence that only mutant PrP aggregates to make kuru plaques in the central nervous system.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Codon
  • DNA
  • DNA Mutational Analysis
  • Female
  • Gerstmann-Straussler-Scheinker Disease / genetics*
  • Gerstmann-Straussler-Scheinker Disease / pathology
  • Humans
  • Immunohistochemistry
  • Molecular Sequence Data
  • Mutation*
  • Nerve Tissue Proteins / genetics*
  • Open Reading Frames
  • PrPSc Proteins
  • Prions / genetics*
  • Prions / metabolism
  • RNA, Messenger / metabolism

Substances

  • Codon
  • Nerve Tissue Proteins
  • PrPSc Proteins
  • Prions
  • RNA, Messenger
  • DNA