Elsevier

Neuroscience Letters

Volume 286, Issue 2, 2 June 2000, Pages 144-148
Neuroscience Letters

First report of polymorphisms in the prion-like protein gene (PRND): implications for human prion diseases

https://doi.org/10.1016/S0304-3940(00)01100-9Get rights and content

Abstract

The aim of this study was to investigate the possible involvement of genetic variation in the prion-like protein gene (PRND), which encodes the doppel protein (Dpl), in the aetiology of human prion diseases. Patients with sporadic, infectious or genetic forms of human prion diseases and controls were systematically screened, using the single-strand conformational polymorphism method, for genetic variants of the PRND gene. Four polymorphisms in PRND (three structural changes, T26M, P56L and T174M and a silent polymorphism, T174T) were detected. No strong association was found between any of these polymorphisms and human prion diseases but certain PRND alleles may be useful markers for tracing the chromosomal ancestry of PRNP mutations. Although genetic variation in PRND does not seem to play a major role in the pathogenesis of prion diseases, this first report of PRND polymorphisms may open up new possibilities for investigating the involvement of such polymorphisms in other human diseases.

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Acknowledgements

We are grateful to the neurologists and neuropathologists who provided the cases on which this study was based. We also thank the families of the patients who supported part of this study. Dr TH Pringle is acknowledged for his suggestions at the early phase of the work. This study was supported by The Programme Interministériel de Recherche sur les ESST et les Prions.

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