Novel strain properties distinguishing sporadic prion diseases sharing prion protein genotype and prion type.

ABSTRACT: In most human sporadic prion diseases the phenotype is consistently associated with specific pairings of the genotype at codon 129 of the prion protein gene and conformational properties of the scrapie PrP (PrP^Sc) grossly identified types 1 and 2. This association suggests that the 129 genotype favours the selection of a distinct strain that in turn determines the phenotype. However, this mechanism cannot play a role in the phenotype determination of sporadic fatal insomnia (sFI) and a subtype of sporadic Creutzfeldt-Jakob disease (sCJD) identified as sCJDMM2, which share 129 MM genotype and PrP^Sc type 2 but are associated with quite distinct phenotypes. Our detailed comparative study of the PrP^Sc conformers has revealed major differences between the two di

SUBMITTER: Cracco L 

PROVIDER: S-EPMC5238384 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature