2023 Theses Bachelor's

Validating a loss-of-function mutation in TRIB-1 to illuminate the genetics of atherosclerosis

Beardsley, Jenn

Cardiometabolic diseases (CVD) remain a major cause of death globally. This group of conditions -- including stroke, heart attack, and coronary artery disease -- originate from atherosclerosis, the deterioration of blood vessels with a complex genetic etiology. One gene that may drive the risk of atherosclerosis is the pseudokinase TRIB-1, but previous research has consisted primarily of genome-wide association studies (GWAS), leaving a gap between statistical findings and in vitro discoveries. Although murine models have demonstrated the protective effect of TRIB-1, the lack of human studies results in the inability to use the gene as a target for therapeutic interventions. This project aims to create a construct of a mutated TRIB-1 with a loss-of-function mutation to be used in future research to arrive at the closest approximation of a human gene knockout study.