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Protein Misfolding Cyclic Amplification of Prions
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Published on: November 7, 2012

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Genetic studies in human prion diseases.

Byung-Hoon Jeong1, Yong-Sun Kim2

  • 1Korea Zoonosis Research Institute, Chonbuk National University, Jeonju, Korea.

Journal of Korean Medical Science
|May 23, 2014
PubMed
Summary

Human prion diseases stem from prion protein gene (PRNP) mutations. This review compares PRNP mutation frequencies in European and East Asian populations, examining their link to neurodegenerative disorders.

Keywords:
Creutzfeldt-Jakob DiseaseGenome-Wide Association StudyMutationPolymorphism, Single NucleotidePrion DiseasesPrion Protein Gene

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Area of Science:

  • Neurogenetics
  • Neurodegenerative Diseases
  • Molecular Biology

Background:

  • Human prion diseases are fatal neurodegenerative disorders characterized by abnormal prion protein (PrPSc) accumulation.
  • Familial prion diseases, accounting for 10-15% of cases, are caused by mutations in the prion protein gene (PRNP).
  • These mutations, including point mutations and repeat insertions, are linked to conditions like Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome, and fatal familial insomnia.

Purpose of the Study:

  • To compare the frequency of PRNP mutations between European and East Asian populations.
  • To review genetic mutations and polymorphisms associated with human prion diseases.
  • To explore the association of PRNP single nucleotide polymorphisms (SNPs) with various forms of CJD.

Main Methods:

  • Literature review of genetic studies on human prion diseases.
  • Comparative analysis of PRNP mutation frequencies across different geographical populations.
  • Examination of associations between PRNP SNPs and CJD subtypes.

Main Results:

  • PRNP mutation frequencies exhibit significant variation between countries.
  • The PRNP codon 129 polymorphism is associated with sporadic, iatrogenic, and variant CJD.
  • Studies on non-PRNP genes have yielded contradictory results regarding CJD association.

Conclusions:

  • Genetic factors, including PRNP mutations and polymorphisms, play a crucial role in human prion diseases.
  • Understanding geographical variations in PRNP mutation frequencies is important for epidemiological studies.
  • Further research, including genome-wide association studies, is needed to identify all genetic factors contributing to CJD.