Genetics, diagnosis and pathogenesis of prion diseases

This research line explores the genetics, biomarkers, pathogenesis, and cellular models associated with prion diseases. - Genetic basis: Variants of the PRNP gene and other related genes are identified in relation to susceptibility or resistance to these diseases in species such as sheep, goats, and horses. The chemical characteristics of these variants and their influence on diseases like scrapie are also studied. Molecular biomarkers: Studies on sheep and transgenic murine models investigate transcriptomes, microRNAs, and circulating exosomes to identify early biomarkers. These findings are translated into human medicine, particularly for diseases like Creutzfeldt-Jakob. - Pathogenesis: Transcriptomic and epigenetic analyses provide insights into neurodegeneration mechanisms, including pathways such as apoptosis and autophagy, using animal models and complete sheep genomes with scrapie. - Cellular models: Innovative models based on mesenchymal stem cells (MSCs) and induced pluripotent stem cells (iPSCs) from sheep are developed to study prion infection and associated toxicity.