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No evidence for prion protein gene locus multiplication in Creutzfeldt-Jakob disease

Steven J Collins1, Maaike Schuur, Alison Boyd

  • 1Australian National CJD Registry, Department of Pathology, The University of Melbourne, Parkville 3010, Australia. stevenjc@unimelb.edu.au

Neuroscience Letters
|January 29, 2010
PubMed

Insights

Genetic Creutzfeldt-Jakob disease (CJD) does not involve gene multiplication. Researchers found no extra prion protein gene (PRNP) copies in sporadic CJD patients, unlike other neurodegenerative diseases.

Area of Science:

  • Neuroscience
  • Genetics
  • Pathology

Background:

  • Familial Alzheimer's and Parkinson's diseases can involve gene locus multiplication.
  • Genetic Creutzfeldt-Jakob disease (CJD) is often clinically similar to sporadic forms, despite a negative family history in many patients with prion protein gene (PRNP) mutations.

Purpose of the Study:

  • To investigate whether multiplication of the prion protein gene (PRNP) locus contributes to the development of sporadic CJD.
  • To compare the genetic basis of human prion disease with other age-related neurodegenerative disorders.

Main Methods:

  • Semi-quantitative analysis of PRNP copy number was performed on 112 patients diagnosed with probable or definite sporadic CJD.
  • Quantitative polymerase chain reaction (qPCR) was utilized for PRNP copy number determination.

Main Results:

  • No instances of additional copies of the PRNP locus were identified in any of the 112 sporadic CJD patients studied.
  • The findings indicate that PRNP gene multiplication does not explain sporadic CJD in the investigated cohort.

Conclusions:

  • Unlike more common age-related neurodegenerative diseases, the genetic etiology of human prion disease appears exclusively linked to small mutations within the PRNP gene.
  • There is no evidence to support PRNP gene locus multiplication as a cause of sporadic CJD.

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