Transmissible spongiform encephalopathies (TSEs), commonly known as prion diseases, are neurodegenerative diseases in humans and some animals. Different from other infectious diseases, which follow the central dogma of molecular biology, prion diseases are proteinaceous. Conversion of the soluble, largely α-helical, monomeric prion protein (PrP<sup>C</sup>) to the misfolded, β-sheet-rich, amyloid aggregates (PrP<sup>Sc</sup>) is believed to be crucial in the pathogenesis of prion diseases. The most well-studied prion diseases in human to date is Creutzfeldt-Jakob disease (CJD), but there are also other inherited forms of human prion diseases, including Fatal Familial Insomnia (FFI) and Gerstmann–Sträussler–Scheinker disease (GSS). GSS is associated with substitution mutations such as P102L, P105L, A117V, and G131V, in the prion protein gene. Additionally, the M129V polymorphism is suspected to play a crucial role in the susceptibility to CJD and GSS, yet its impact on the fibril formation kinetics and structure remains unclear. The full chemical shift assignments and amyloid core structure of the wild-type C-truncated human Y145Stop prion protein (huPrP23-144) has been determined in previous studies by our group. Here, we investigate the impact of A117V, M129V and A117V/M129V mutations on the fibril formation kinetics and molecular conformation.

Structural studies of GSS-associated Y145Stop prion protein amyloids by solid-state NMR spectroscopy

Macromolecular Chemistry: The Second Century

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ACS Spring 2020 National Meeting & Expo

The official archive and repository for all ACS Meetings & Expositions abstracts and select posters or presentations.