Abstract by Henry Gold
Chemistry and Biochemistry
LRBA Deficiency and its affect on autophagy and ATG9A trafficking
Autophagy is a cellular recycling process that leads to disease when it is changed. Disease can be cause in many different ways, many of which are unknown, due to mechanisms that have yet to be discovered. ATG9A is an autophagy regulator with few known interactors. To discover interactors, our lab used a biotin labeling technique called BioID and developed a bank of possible ATG9A interacting proteins. One of the more interesting proteins was the vesicle trafficking regulator Lipopolysaccharide-Responsive Beige-Like Anchor Protein (LRBA). Human mutations in LRBA cause dysfunctional autophagy leading to disease. We validate LRBA as an ATG9A interactor and measure how LRBA deletion affects autophagy. Furthermore, we demonstrate that LRBA is an ATG9A trafficking regulator. We hypothesize that LRBA disease is caused by dysregulated ATG9A trafficking and propose an experimental model to prove our hypothesis.