NALP3 Activation Triggers Development of AMD

Bruce Ksander, PhD The Schepens Eye Research Institute


Age related Macular Degeneration (AMD) causes loss of vision and blindness in elderly patients when two types of cells are damaged (i) RPE (called retinal pigment epithelial cells), and (ii) photoreceptors. We discovered a gene (called NALP3) is expressed in retinal cells during development of AMD. We predict this gene is important in triggering this disease via the activation of localized inflammation.

Project Details

Retinal pigment epithelial (RPE) cells support the light‐detecting photoreceptor cells by recycling and removing waste products. If RPE cells are unhealthy, then this waste can build‐up and damage the retina. Inflammation is an important part of the AMD disease process, and RPE cells have their own special type of proteins—called the “inflammasome”—to monitor and determine if the RPE are working properly. In fact, if this RPE waste recycling and removal process isn't functioning properly, the inflammasome sends out signals for the immune system to swoop in and kill the malfunctioning RPE cells. Dr. Ksander and collaborators have discovered a new risk gene—called NALP3— that is expressed in retinal cells and is suspected to be important in triggering AMD via the inflammasome. These researchers will determine whether this gene is involved in the death of RPE cells and, if so, whether it will be a new target for treatment of AMD.