Novel polymorphisms in the prion protein gene (PRNP) and stability of the resultant prion protein in different horse breeds

• DOI: 10.1186/s13567-023-01211-8
• Publication Date: 2023-10-17T20:02:09Z
• Authors: Diego Sola; Rody Artigas; Diego R. Mediano; Pilar Zaragoza; Juan José Badiola; Inmaculada Martín...; Cristina Acín
• Keywords: PRNP; SNP

Prion diseases are fatal neurodegenerative disorders in which the main pathogenic event is conversion of cellular prion protein (PrPC) into an abnormal and misfolded isoform known as PrPSc. Most their susceptibility pathogenesis mainly modulated by PRNP gene that codes for PrP. Mutations polymorphisms can alter PrPC amino acid sequence, leading to a change transmission efficiency depending on place where it occurs. Horses animals considered be highly resistant prions. Several studies have attempted identify explain reason this high resistance. In study, we analysed 207 horses from 20 different breeds, discovering 3 novel polymorphisms. By using computer programmes such PolyPhen-2, PROVEAN, PANTHER, Meta-SNP PredictSNP, predicted possible impact these new would horse protein. addition, measured propensity amyloid aggregation AMYCO lack hydrogen bridges changes entail together with electrostatic potentials Swiss-PdbViewer software, showing increased could due at level potentials.