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Related Experiment Videos

Mutations and polymorphisms in the prion protein gene

M S Palmer1, J Collinge

  • 1Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, Norfolk Place, London, UK.

Human Mutation
|January 1, 1993
PubMed
Summary

Prion diseases are linked to prion protein gene mutations and a common codon 129 polymorphism. Understanding these genetic factors aids in diagnosing inherited, sporadic, and iatrogenic prion diseases and familial dementias.

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Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Prion diseases encompass inherited, sporadic, and iatrogenic forms.
  • Mutations in the prion protein gene are central to inherited prion diseases.
  • A common polymorphism at codon 129 influences susceptibility to all prion disease types.

Purpose of the Study:

  • To update the catalog of known prion protein gene mutations and polymorphisms.
  • To correlate these genetic variations with clinical phenotypes.
  • To discuss the role of the codon 129 genotype in various prion disease etiologies.

Main Methods:

  • Literature review of published mutations and polymorphisms in the prion protein gene.
  • Clinical phenotype data compilation.

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  • Genotype-phenotype correlation analysis.

    • Main Results:

    • Six insertion mutations (octapeptide repeat region variations) and six point mutations identified.
    • Codon 129 polymorphism's significance in inherited, sporadic, and iatrogenic prion diseases discussed.
    • Expanded spectrum of prion disease phenotypes linked to gene mutations.

    Conclusions:

    • Prion protein gene mutations and polymorphisms are key diagnostic and etiological factors.
    • Identification of mutations broadens the classification of prion diseases.
    • Genetic analysis, particularly at codon 129, is crucial for diagnosing familial dementias and prionopathies.