The role of PLIN5 deficiency in podocyte lipotoxicity and progression of Alport Syndrome

PROJECT NARRATIVE Alport Syndrome (AS) is an inherited disease that affects the kidney, the ear, and the eye; patients with AS often require dialysis early in life. We show that deficiency of a protein named perilipin 5 (PLIN5) affects the respiratory function of podocytes, a key cellular constituent of the kidney filtration barrier. Findings from this proposal may allow for the identification of a new function of a drug called Ezetimibe which was developed for the cure of high cholesterol and may be helpful in preventing kidney disease in AS by regulating PLIN5 expression.