Amyloid protein of Gerstmann-Sträussler-Scheinker disease (Indiana kindred) is an 11 kd fragment of prion protein with an N-terminal glycine at codon 58

EMBO J. 1991 Mar;10(3):513-9. doi: 10.1002/j.1460-2075.1991.tb07977.x.

Abstract

Gerstmann-Sträussler-Scheinker (GSS) disease is a familial neurological disorder pathologically characterized by amyloid deposition in the cerebrum and cerebellum. The GSS amyloid is immunoreactive to antisera raised against the hamster prion protein (PrP) 27-30. This is a proteinase K-resistant glycoprotein of 27-30 kd that is derived from an abnormal isoform of a neuronal glycoprotein of 33-35 kd designated PrPSc and is a molecular marker of amyloid fibrils isolated from animals with scrapie and humans with related disorders. We have purified and characterized proteins extracted from amyloid plaque cores isolated from two patients of the Indiana kindred of GSS disease. We found that the major component of GSS amyloid is an 11 kd degradation product of PrP, whose N-terminus corresponds to the glycine residue at position 58 of the amino acid sequence deduced from the human PrP cDNA. In addition, amyloid fractions contained larger PrP fragments with apparently intact N-termini and amyloid P component. These findings suggest that the disease process leads to proteolytic cleavage of PrP, generating an amyloidogenic peptide that polymerizes into insoluble fibrils. The N-terminal cleavage of PrP in GSS disease occurs at a tryptophan-glycine peptide bond identical to that cleaved by proteinase K in vitro to generate PrP 27-30 from hamster PrPSc at codon 90. Since no mutations of the structural PrP gene have been found in the Indiana family of GSS disease, it is conceivable that factors other than the primary structure of PrP play a crucial role in the process of amyloid formation and the development of clinical neurologic dysfunction.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Amyloid / genetics*
  • Amyloid / isolation & purification
  • Animals
  • Basal Ganglia / metabolism
  • Cerebral Cortex / metabolism
  • Chromatography, Gel
  • Codon / genetics*
  • Gerstmann-Straussler-Scheinker Disease / genetics*
  • Glycine*
  • Humans
  • Immunoblotting
  • Molecular Sequence Data
  • PrPSc Proteins
  • Prions / genetics
  • Scrapie / genetics
  • Scrapie / metabolism
  • Sequence Homology, Nucleic Acid
  • Viral Proteins / genetics*

Substances

  • Amyloid
  • Codon
  • PrPSc Proteins
  • Prions
  • Viral Proteins
  • Glycine