Search results for "PRNP"

2019

Abstract Background Comprehensive transcriptomic analyses have shown that colorectal cancer (CRC) is heterogeneous and have led to the definition of molecular subtypes among which the stem-cell, mesenchymal-like group is associated with poor prognosis. The molecular pathways orchestrating the emergence of this subtype are incompletely understood. In line with the contribution of the cellular prion protein PrPC to stemness, we hypothesize that deregulation of this protein could lead to a stem-cell, mesenchymal-like phenotype in CRC. Methods We assessed the distribution of the PrPC-encoding PRNP mRNA in two large CRC cohorts according to molecular classification and its association with patie…

No Association Between Genetic Polymorphism at Codon 129 of the Prion Protein Gene and Primary Progressive Multiple Sclerosis

2011

Two novel amino acid substitutions in highly conserved regions of prion protein (PrP) and a high frequency of a scrapie protective variant in native …

2019

Background Polymorphisms of the prion protein gene may influence scrapie susceptibility in small ruminants through modified protein conformation. At least 47 amino acid substitutions and 19 silent polymorphisms have been described in goat PRNP reported from several countries. The objective of this study was to investigate PRNP polymorphisms of native Ethiopian goat breeds and compare the results with other goat breeds. Results The analysis of the prion protein gene PRNP in 229 goats belonging to three of the main Ethiopian native goat breeds showed a remarkably high frequency (> 34.6%) of p.(Asn146Ser) in these breeds, a variant involved in scrapie resistance in Cyprus. In addition, two nov…

Analysis of the influence of the PrP genotype on the litter size in Polish sheep using classification trees and logistic regression

2014

The relation between prion protein (PrP) genotype class and litter size was analysed in Polish Merino, Black-headed, Ile de France and Berrichon du Cher sheep in Poland. Litter size was analysed with the classification tree technique and multiple logistic regression for effects of breed, age of ewe, PrP genotype, litter size of ewe at her birth, and at her rearing and year of ewe's birth. The resulting classification tree was 6-level deep and contained 21 leaves. Age, breed and year of birth were more important determinants of litter size than PrP genotype. Importance of PrP genotype in the tree development was 0.560 relative to age of ewe. While the logistic regression analysis showed that…

The cognitive profile of prion disease: a prospective clinical and imaging study

2015

Objectives Prion diseases are dementing illnesses with poorly defined neuropsychological features. This is probably because the most common form, sporadic Creutzfeldt-Jakob disease, is often rapidly progressive with pervasive cognitive decline making detailed neuropsychological investigation difficult. This study, which includes patients with inherited, acquired (iatrogenic and variant) and sporadic forms of the disease, is the only large-scale neuropsychological investigation of this patient group ever undertaken and aimed to define a neuropsychological profile of human prion diseases. Methods A tailored short cognitive examination of all of the patients (n = 81), with detailed neuropsycho…