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Codon 129 polymorphism of prion protein gene in sporadic Alzheimer's disease

A Poleggi1, A Bizzarro, A Acciarri

  • 1Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Rome, Italy.

European Journal of Neurology
|January 26, 2008
PubMed

Insights

The prion protein gene codon 129 polymorphism is a risk factor for Creutzfeldt-Jakob disease (CJD). This study found no evidence that this PRNP polymorphism influences Alzheimer's disease (AD) susceptibility.

Area of Science:

  • Neurogenetics
  • Neurodegenerative Diseases
  • Prion Diseases

Background:

  • Codon 129 polymorphism in the prion protein gene (PRNP) is a known risk factor for Creutzfeldt-Jakob disease (CJD).
  • Both CJD and Alzheimer's disease (AD) involve brain amyloidosis, suggesting a potential link.
  • The role of PRNP codon 129 polymorphism in AD susceptibility requires investigation.

Purpose of the Study:

  • To investigate the association between PRNP codon 129 polymorphism and Alzheimer's disease.
  • To determine if PRNP codon 129 polymorphism influences AD risk.
  • To examine this association in both probable and definite AD cases, considering APOE polymorphism.

Main Methods:

  • Genotyping of the PRNP codon 129 polymorphism in Italian and US cohorts.
  • Comparison of PRNP 129 polymorphism distribution between AD patients and controls.
  • Stratification analysis including APOE polymorphism.

Main Results:

  • No significant association was found between PRNP codon 129 polymorphism and AD in the Italian cohort (probable AD).
  • No significant association was found between PRNP codon 129 polymorphism and AD in the US cohort (definite AD).
  • Stratification by APOE polymorphism did not reveal any significant association.

Conclusions:

  • The PRNP codon 129 polymorphism does not appear to be a susceptibility factor for Alzheimer's disease.
  • This genetic polymorphism is unlikely to play a significant role in AD pathogenesis.
  • Further research may explore other genetic factors in AD.

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