Prion protein expression and processing in human mononuclear cells: the impact of the codon 129 prion gene

Christiane Segarra1, Sylvain Lehmann, Joliette Coste

  • 1Etablissement Français du Sang de Pyrénées Méditerranée, Montpellier, France.

Plos One
|June 5, 2009
PubMed
Abstract

Insights

The M129V PRNP gene polymorphism does not affect prion protein expression or processing in human peripheral blood mononuclear cells (PBMCs). Further research is needed in other tissues to understand prion propagation.

Area of Science:

  • Neuroscience
  • Genetics
  • Infectious Diseases

Background:

  • Variant Creutzfeldt-Jakob disease (vCJD) cases are linked to M/M homozygosity at the PRNP gene's M129V polymorphism.
  • Prion agents are found in the bloodstream, raising concerns about transfusion-transmitted vCJD.
  • The mechanism behind the M129V polymorphism's influence on vCJD remains unclear.

Purpose of the Study:

  • To investigate the impact of the M129V polymorphism on prion protein (PrP) expression and processing.
  • To analyze PrP in human peripheral blood mononuclear cells (PBMCs) across different M129V genotypes (M/M, V/V, M/V).

Main Methods:

  • Real-time PCR, ELISA, and immunoblot assays were used.
  • PBMCs from three blood donor populations representing M/M, V/V, and M/V genotypes were analyzed.

Main Results:

  • No significant differences in PrP expression were observed concerning the M129V polymorphism.
  • PrP processing and apparent glycoform distribution showed no significant variation across genotypes.
  • The M129V polymorphism did not impact PrP levels or modification in PBMCs.

Conclusions:

  • The M129V PRNP gene polymorphism does not significantly influence PrP expression or processing in human PBMCs.
  • These findings suggest that other cell types or tissues may be more relevant for studying prion propagation related to this polymorphism.
  • Further investigation into prion propagation mechanisms in different cellular contexts is warranted.

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