Human PrP E219K: a new and promising substrate for robust RT-QuIC amplification of human prions with potential for strain discrimination.

ABSTRACT: Mammalian prion diseases are fatal neurodegenerative disorders caused by the conformational conversion of the host-encoded prion protein (PrP) into a pathogenic, misfolded isoform, known as PrP^Sc. Definitive diagnosis currently relies on post-mortem histopathological examination of the central nervous system. Among emerging diagnostic tools, in vitro amplification techniques such as Real-Time Quaking-Induced Conversion (RT-QuIC) have demonstrated high sensitivity, specificity, and speed, although certain prion strains remain difficult to amplify. Here, we evaluate a novel recombinant substrate for RT-QuIC: human PrP E219K, a naturally occurring polymorphism in which lysine substitutes glutamic acid at codon 219. Using this substrate, we successfully amplified six sporadic

SUBMITTER: Marin-Moreno A 

PROVIDER: S-EPMC12323364 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature