Utilizing Stem Cell Derived RPE Cells to Study Danon Disease

Our research probes the impact of lysosomal mutations on retinal health and function. We are particularly interested in the pathognomonic features resulting from mutations in lysosome-associated membrane protein 2 (LAMP2), commonly referred to as Danon’s disease (DD). To accomplish this, we have taken advantage of the recent advances in pluripotent stem cell biology by obtaining patient-derived fibroblasts and in turn, reprogrammed induced pluripotent stem cells (iPSC). These iPSCs can differentiate into virtually all cell types and can therefore be utilized to generate appropriate models to study DD in vitro, such as the presumed impaired retinal pigment epithelium (RPE) phagocytic machinery. Adriana is focused on characterizing the activity of autophagy-associated markers via quantitative polymerase chain reaction and immunocytochemistry in DD patient-derived RPE.