Age-related Macular Degeneration (AMD) is the leading cause of legal blindness in older adults in the United States and worldwide. AMD is defined by the presence of extracellular lipid rich materials such as drusen, basal linear deposit (BLinD) and/or subretinal drusenoid deposit (SDD). A major component of drusen/SDD is lipoprotein particles containing cholesterol and variety of apolipoproteins that are secreted by retinal pigment epithelium (RPE) or photoreceptors. Therefore, understanding the role of lipid metabolism pathways in AMD pathogenesis is timely and the knowledge gained will lead us to develop better detection markers and new treatment approaches.
Phospholipid transfer protein (PLTP) and Cholesterol ester transfer protein (CETP) have long been studied for their critical roles in lipoprotein production and their association with cardiovascular disease. GWAS identified SNPs associated with advanced AMD in lipid metabolism genes such CETP. The primary focus of my lab is to investigate and provide direct experimental evidence of the involvement of these genes in AMD and DR development. To achieve these goals, we use knockout, transgenic, and conditional knockout mouse models of these genes.