Targeting disease mechanism to modify eye and kidney disease due to collagen IV mutations.

Cells are surrounded by a matrix that consists of proteins and provides strength to tissues. We have uncovered that mutations in one of these proteins, collagen IV, cause eye and kidney disease, and accumulation of collagen in cells. Interestingly, our work using cells from patients suggests reducing collagen accumulation may improve disease. We will now determine if targeting this collagen accumulation using drugs can affect eye and kidney disease in mice with the same mutations. This will greatly increase our knowledge of how disease develops and aid future treatment development for patients with these mutations.