PRNP


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PRNP

A gene on chromosome 20p13 that encodes a membrane glycosyl-phosphatidylinositol-anchored glycoprotein, which aggregates into rod-like structures and contains a highly unstable region of five tandem octapeptide repeats. The exact function of PrP is unknown.

Molecular pathology
PRNP mutations are linked to Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington-like disease 1 and kuru.
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Prion infectivity in the spleen of a PRNP heterozygous individual with subclinical variant Creutzfeldt-Jakob disease.
del gen PRNP y a los subtipos de la enfermedad derivados de ellos.
By comparing the PRNP sequence from BSE-infected cattle to healthy cattle, we may be able to identify genetic markers in the prion gene that predict BSE susceptibility," he says.
Estas diferencias en el plegamiento para las diferentes variantes de la PRNP brindan una convincente explicacion cinetica a la alta susceptibilidad de individuos homocigotos para metionina (41); sin embargo, siguen quedando dudas acerca del significado biologico de estos hallazgos, pues se sabe que in vivo la proteina prionica mal plegada es resistente a la destruccion con proteinasas, contrario a lo que sucede con formas anomalas detectadas in vitro.
The patient in our study who was infected with a prion containing PRNP gene codon 129 Met/Val is 1 of only 2 identified vCJD agent-infected persons known to have died of other causes before onset clinical symptoms of vCJD, and the only person who provided consent to sample autopsy tissues for research.
In reindeer challenged orally with the agent of CWD, the SS138 genotype (serine/serine at PRNP codon 138) has been associated with susceptibility to disease and the NS 138 (asparagine/serine) genotype with resistance (1).
Does PRNP gene control the clinical and pathological phenotype of human spongiform transmissible encephalopathies?
All 11 patients were of the PRNP codon 129VV genotype, and postmortem examination of brain tissues showed that the patients had a spongiform encephalopathy (4).
We describe a rapid and accurate method for the genotyping of the PRNP codon 129 polymorphism based on real-time PCR mutation detection by melting-point analysis with fluorescent hybridization probes with fluorescence resonance energy transfer (3,4).
Prnp/PRNP gene sequence variation has been linked to disease susceptibility (8), and differences in the PRNP genes of cynomolgus macaques and the genes of squirrel monkeys could play a major role.
Similarities in the species-specific primary PRNP sequences may account for part of this effect, but prion strain and host PRNP polymorphic genotype, both of which probably find expression in the conformation of PrP, affect susceptibility in ways not yet fully understood.
The occurrence of atypical clinical features in persons with vCJD that encodes methionine and valine on PRNP codon 129 and human-to-human transmission of vCJD through blood transfusion have raised concern about atypical clinical features and alternative distribution of [PrP.