Related Experiment Video
Updated: Aug 11, 2026

Protein Misfolding Cyclic Amplification of Prions
Published on: November 7, 2012
First report of polymorphisms in the prion-like protein gene (PRND): implications for human prion diseases
K Peoc'h1, C Guérin, J P Brandel
1Centre de Recherche Claude Bernard, IFR6, Service de Biochimie et de Biologie Moléculaire, Hôpital Lariboisière, 2, rue A. Paré, 75475 Paris cedex 10, France.
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, T(174)T) 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.
Related Concept Videos
Amyloid Fibrils
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining, normally used to...
Alternative RNA Splicing
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
Leaky Scanning
Single Nucleotide Polymorphisms-SNPs
Subviral Agents

