Heterozygosity for cervid S138N polymorphism results in subclinical CWD in gene-targeted mice and progressive inhibition of prion conversion.

ABSTRACT: Prions are proteinaceous infectious particles that replicate by structural conversion of the host-encoded cellular prion protein (PrP^C), causing fatal neurodegenerative diseases in mammals. Species-specific amino acid substitutions (AAS) arising from single nucleotide polymorphisms within the prion protein gene (Prnp) modulate prion disease pathogenesis, and, in several instances, reduce susceptibility of homo- or heterozygous AAS carriers to prion infection. However, a mechanistic understanding of their protective effects against clinical disease is missing. We generated gene-targeted mouse infection models of chronic wasting disease (CWD), a highly contagious prion disease of cervids. These mice express wild-type deer or PrP^C harboring the S138N substitution

SUBMITTER: Arifin MI 

PROVIDER: S-EPMC10104538 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature