SAT-099 ANILLIN (ANLN) MUTATION INITIATES ER-STRESS MEDIATED APOPTOSIS AND INCREASE SUSCEPTIBILITY TO GLOMERULAR INJURY IN MICE

Abstract

We previously reported that mutations in ANLN cause familial focal segmental glomerulosclerosis (FSGS). Anillin is an F-actin binding protein that modulates cell motility and interacts with the phosphoinositide 3-kinase (PI-3K) pathway through the slit diaphragm adaptor protein CD2A-associated Protein (CD2AP). It is unclear how ANLNR431C causes FSGS phenotype. We hypothesized that the mutation exerts its pathogenic effects by uncoupling ANLN from CD2AP and inducing aberrant PI3K/AKT/mTOR signaling.