Retinal Pigment Epithelial Cells and Complement

The project investigates how CFH/CFB protein production is controlled in the eye in normal and disease conditions. It will help identify factors responsible for AMD development and develop new treatments.

Age-related macular degeneration (AMD) is the largest cause of untreatable blindness in developed countries. How the disease is started is not known. Recent evidence suggests that patients who carry variants of certain genes (namely complement regulatory factor H (CFH) gene) are at higher risk of developing AMD, whereas another gene (namely complement factor B (CFB) gene) variation can reduce the risk of AMD. The products of these two genes are CFH and CFB proteins, which are both important in complement activation (a kind of inflammation). CFH/CFB proteins are normally produced in the liver and distributed in the bloodstream. Patients with AMD usually have no other diseases related to CFH or CFB dysfunction apart from the eye. We speculate that these genes also are active in the eye with local protein productions, this may serve as a regulatory system to prevent unwanted inflammation. When these genes are not functioning properly as in some variants of the genes then AMD might develop due to damage from local inflammation.