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Discovery of human single nucleotide polymorphisms affecting staphylococcal diseases

Subject Area Medical Microbiology and Mycology, Hygiene, Molecular Infection Biology
Term from 2020 to 2024
Project identifier Deutsche Forschungsgemeinschaft (DFG) - Project number 449712894
 
Final Report Year 2024

Final Report Abstract

Staphylococcus aureus is a notorious pathogen that uses sophisticated immune-evasion strategies to cause local and invasive infections. However, host factors and underpinning genetic determinants that affect staphylococcal infectious diseases are largely unknown. Thus, this research project aimed at identifying human factors and associated polymorphisms that impair S. aureus disease pathogenesis. Initial work focused on specific genes of the apoptotic signaling pathways and took advantage of CRISPR/Cas9 mutagenesis in human immune cells to dissect the pathogen’s strategy of disrupting host multicellular assemblies. Concurrently, a mouse model of bloodstream infection was used to demonstrate that the host apoptosis pathway plays a crucial role in rendering mammals susceptible toward S. aureus. Based on these findings, subsequent work along with genetic engineering was used to identify single nucleotide polymorphisms (SNPs) in key genetic elements of the host intrinsic pathway of apoptosis that alter the susceptibility of phagocytes toward staphylococci. In this manner, various candidate SNPs were discovered which shield host immune cells from the cytotoxic properties of S. aureus-derived effector-nucleosides that target mitochondria and the apoptosis-cell death axis. Overall, these studies uncovered a crucial signaling pathway that renders the host susceptible toward S. aureus thereby opening novel opportunities for the design of immunomodulatory therapeutic strategies.

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