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Protein Misfolding Cyclic Amplification of Prions
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Rare structural genetic variation in human prion diseases.

Ana Lukic1, James Uphill1, Craig A Brown1

  • 1MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK.

Neurobiology of Aging
|March 2, 2015
PubMed
Summary

Copy number variants (CNVs) do not appear to significantly increase the risk for sporadic Creutzfeldt-Jakob disease (sCJD) or other prion diseases. This study found no evidence linking CNVs to these neurodegenerative conditions.

Keywords:
CJDCNVGWASKuruPrion

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Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Prion diseases are neurodegenerative disorders caused by prion protein misfolding.
  • Genetic factors, including prion protein gene (PRNP) variants, influence disease risk.
  • Copy number variants (CNVs) are implicated in other neurological and psychiatric disorders.

Purpose of the Study:

  • To investigate the association between copy number variants (CNVs) and the risk of prion diseases.
  • To conduct the first genome-wide analysis for CNV-associated risk in sporadic Creutzfeldt-Jakob disease (sCJD).
  • To examine CNV associations in variant Creutzfeldt-Jakob disease and kuru-resistant populations.

Main Methods:

  • Genome-wide analysis of CNVs in sCJD patients and controls.
  • Analysis of CNVs in UK variant CJD patients.
  • Investigation of CNVs in kuru-resistant Papua New Guinean populations.
  • Cell-based prion infection assays.

Main Results:

  • No statistically significant increase in CNV burden (>100 kb) was found in sCJD, vCJD, or kuru-resistant groups.
  • No significant CNV associations were identified after multiple testing correction.
  • A potential association with PARK2 gene deletions in sCJD was not supported by functional assays.

Conclusions:

  • CNVs likely have a modest impact on the risk of late-onset neurological conditions.
  • PRNP duplication is not a high-risk mutation for prion diseases.
  • The study did not find significant evidence for CNV involvement in prion disease susceptibility.