Age related Macular Degeneration
The complement system is a major part of innate immunity and plays an essential role in cellular homeostasis, tissue remodeling, as well as in host defense and inflammation. Deregulated complement action or activation due to absent or defective complement regulators have been implicated in diseases like age-related macular degeneration (AMD) or C3-glomerulopathy (C3G). The aim of this research project is to identify and characterize novel human complement regulators and to investigate the role of these regulators in the disease pathology of AMD. AMD is the most common cause of blindness in developed countries. The disease is characterized by the degeneration of RPE cells due to the accumulation of drusen at the macular. The ARMS2 (age-related maculopathy susceptiblity 2) variant at 10q26 (A69S, rs10490924) has repeatedly been significantly associated with AMD. However, the physiological role of ARMS2 is still unclear. Similarly the deficiency of CFHR1 and CFHR3 proteins of the Factor H related protein family, influence the risk of AMD; in this case the deficiency is protective. The reason for this protective effect is still unclear. For this reason, the roles of ARMS2, CFHR1 and CFHR3 in AMD are elucidated in detail.