A prion protein missense variant is integrated in kuru plaque cores in patients with Gerstmann-Sträussler syndrome

Neurology. 1991 Feb;41(2 ( Pt 1)):306-10. doi: 10.1212/wnl.41.2_part_1.306.

Abstract

Kuru plaques are the pathologic hallmark in Gerstmann-Sträussler syndrome (GSS). To demonstrate that prion protein (PrP) is a component of kuru plaque cores, we fractionated and sequenced kuru plaque core derived peptides, following digestion with Achromobacter lyticus protease I. We identified 3 PrP-derived peptides by reverse-phase high-performance liquid chromatography and found a fragment of digests derived from a missense variant of PrP. The variant PrP was also present in the prion rod fraction in patients with GSS. This substitution may play a major role in cerebral amyloidogenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Chromatography, High Pressure Liquid / methods
  • Creutzfeldt-Jakob Syndrome / metabolism
  • Creutzfeldt-Jakob Syndrome / pathology
  • Genetic Variation
  • Gerstmann-Straussler-Scheinker Disease / metabolism*
  • Gerstmann-Straussler-Scheinker Disease / pathology
  • Humans
  • PrPSc Proteins
  • Prions / metabolism
  • Viral Proteins / genetics
  • Viral Proteins / metabolism*

Substances

  • PrPSc Proteins
  • Prions
  • Viral Proteins