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Generalized Psychophysiological Interaction (PPI) Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease
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Is M129V of PRNP gene associated with Alzheimer's disease? A case-control study and a meta-analysis

Roberto Del Bo1, Marina Scarlato, Serena Ghezzi

  • 1Dino Ferrari Centre, Department of Neurological Sciences, University of Milan and Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Padiglione Ponti, Milano, Italy. roberto.delbo@unimi.it

Neurobiology of Aging
|August 16, 2005
PubMed

Insights

The prion protein gene (PRNP) M/V polymorphism at codon 129 may influence cognitive function in Alzheimer's disease (AD). While not a direct risk factor in Italians, Caucasian homozygotes showed a 1.3-fold increased AD risk.

Area of Science:

  • Neurogenetics
  • Neurodegenerative Diseases

Background:

  • The methionine/valine (M/V) polymorphism in the prion protein gene (PRNP) at codon 129 is a known risk factor for Creutzfeldt-Jakob disease (CJD).
  • Previous studies on the association between this PRNP polymorphism and Alzheimer's disease (AD) risk have yielded controversial results.

Purpose of the Study:

  • To investigate the association between the PRNP codon 129 M/V polymorphism and Alzheimer's disease (AD) risk.
  • To clarify the role of this polymorphism in cognitive performance.

Main Methods:

  • Conducted a novel case-control study in the Italian population.
  • Performed a meta-analysis of published association studies on PRNP and AD.

Main Results:

  • The PRNP gene polymorphism was not found to be a susceptibility factor for AD in the Italian population.
  • The V allele was associated with influencing cognitive performances.
  • Meta-analysis revealed a 1.3-fold increased risk of AD in Caucasian subjects homozygous at codon 129 compared to heterozygous individuals.
  • The MM genotype and M allele were identified as risk factors for AD, irrespective of ethnic background, indicating a modest but significant association.

Conclusions:

  • The PRNP codon 129 M/V polymorphism may play a role in AD pathogenesis, particularly in Caucasian populations.
  • Further research is warranted to elucidate the precise mechanisms underlying the association between PRNP polymorphism and AD risk and cognitive function.

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