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Deciphering the pathogenesis of sporadic Creutzfeldt-Jakob disease with codon 129 M/V and type 2 abnormal prion

Atsushi Kobayashi1, Yasushi Iwasaki, Hiroyuki Otsuka

  • 1Division of Neurological Science, Tohoku University Graduate School of Medicine, 2-1 Seiryo-machi, Aoba-ku, Sendai 980-8575, Japan. kitamoto@med.tohoku.ac.jp.

Acta Neuropathologica Communications
|November 21, 2013
PubMed
Abstract

Insights

Sporadic Creutzfeldt-Jakob disease MV2 subtypes have diverse origins of abnormal prion protein (PrPSc). Understanding these distinct PrPSc sources clarifies the complex pathogenesis of MV2 forms.

Area of Science:

  • Neuroscience
  • Prion Biology
  • Molecular Genetics

Background:

  • Sporadic Creutzfeldt-Jakob disease (sCJD) classification relies on prion protein gene (PrP) codon 129 genotype and abnormal PrPSc isoform type.
  • The MV2 subtype presents significant phenotypic heterogeneity, including MV2 cortical (MV2C), MV2 kuru plaque (MV2K), and mixed MV2K+C forms.
  • Pathogenesis of MV2 subtypes remains complex, necessitating detailed investigation.

Purpose of the Study:

  • To comprehensively analyze the histopathological, molecular, and transmission properties of the three MV2 sCJD subgroups.
  • To elucidate the underlying reasons for the phenotypic variations within the MV2 classification.

Main Methods:

  • Histopathological examination of brain tissue.
  • Molecular typing of PrPSc isoforms.
  • Transmission studies using PrP-humanized mice models.
  • Analysis of PrPSc electrophoretic mobility.

Main Results:

  • MV2C showed histopathological and molecular similarities to MM2 cortical form (MM2C), distinguishing it from other MV2 subgroups.
  • MV2K and MV2K+C shared identical molecular and transmission types, differing mainly in the presence of cortical pathology.
  • MV2K and MV2K+C exhibited a mixture of type 2 PrPSc and intermediate PrPSc, while MV2C+K potentially contained non-infectious M2C PrPSc alongside intermediate and V2 PrPSc.

Conclusions:

  • Phenotypic heterogeneity in MV2 sCJD subtypes arises from distinct origins of abnormal prion protein (PrPSc).
  • The study clarifies the complex pathogenesis of MV2 subtypes by differentiating their PrPSc sources.

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