iPSCs for modeling lysosomal storage diseases

Abstract Lysosomal storage diseases (LSDs) represent a heterogeneous group of inherited diseases caused by mutations in the genes coding for proteins involved in the degradation and transfer of lipids and other macromolecules. Current LSD animal models and fibroblasts isolated from LSD patients have made it possible to evaluate the course of the disease, including before onset of symptoms. However, animal models cannot fully reflect the molecular mechanisms of pathogenesis of human LSDs. The generation of LSD models from iPSCs can allow the investigation of disease pathogenesis in different types of LSD affected cells, as well as the development of new therapeutic strategies for these disorders. This chapter discusses current results of iPSC-based modeling of various LSDs, methods for the generation of iPSCs, and the application of iPSC-differentiated cells and organoids for the investigation of the disease pathogenesis and testing of therapeutic compounds.