Influence of the prion protein and the apolipoprotein E genotype on the Creutzfeldt–Jakob Disease phenotype

doi:10.1016/S0304-3940(01)02264-9

Neuroscience Letters

Volume 313, Issues 1–2, 2 November 2001, Pages 69-72

https://doi.org/10.1016/S0304-3940(01)02264-9 Get rights and content

Abstract

We investigated the risk associated with the codon 129 polymorphism in the prion protein gene (PRNP) and apolipoprotein E gene (APOE) isoforms for development of Creutzfeldt–Jakob disease (CJD) (n=126) and the possible influences on the disease pathology and its most important clinical characteristics. The PRNP M129V (PRNP129) polymorphism was determined using both DNA extracted from formalin fixed and paraffin embedded brain tissue (n=59) and leukocyte extracted DNA (n=67). In the latter group also the PRNP open reading frame and the APOE genotype were analysed and compared to a neurologically unaffected, age and sex matched control group (n=79). We found that methionine homozygosity of the PRNP129 increases the risk for developing CJD. PRNP129 also influenced the prion accumulation patterns in brain. The APOE 4 allele was an independent risk factor for developing CJD. We further observed a significant dose dependent APOE 4 effect on the number and type of amyloid-beta plaques in the brain of CJD patients.

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Acknowledgements

We would like to thank Dr Bratosiewich and Professor Dr P. Liberski of the Medical University of Lodz and the members of the Belgian CJD study group for their co-operation: Professor Dr J. De Reuck, Professor Dr M. Deprez, Dr A. Michotte, Professor Dr M. Praet, Professor Dr I. Salmon, Professor Dr J.J. Vanderhaeghen, Professor Dr G. Ebinger, Professor Dr J. De Bleecker, Professor Dr R. Sciot, Professor Dr R. Dom, Professor Dr J.M. Brucher and Professor Dr C. Sindic. This research was supported

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Influence of the prion protein and the apolipoprotein E genotype on the Creutzfeldt–Jakob Disease phenotype

Abstract

Section snippets

Acknowledgements

Lancet

Brain Res. Bull.

Neurosci. Lett.

Brain. Res.

Neurosci. Lett.

Polymorphism at codon 129 of the prion protein gene in the normal Polish population

Neuropath. Appl. Neurobiol.

Similar genetic susceptibility in iatrogenic and sporadic Creutzfeldt–Jakob disease

J. Gen. Virol.

Codon 129 changes in the prion protein gene in Caucasians

Am. J. Hum. Genet.