The mechanism by which lysosomal storage in bone cells affects skeletal development is still unknown. Current therapies for MPS showed very little efficacy for the treatment of this aspect of the disease. Our lab is focused on the identification of the molecular mechanisms accounting for the skeletal phenotype in MPS, with the final goal to identify a novel therapeutic strategy for the treatment of this debilitating feature. In this grant application we propose to modulate in vivo the activity of two cellular metabolic pathways, which we found to be altered in MPS cartilage cells, as an attempt to cure the skeletal phenotype in MPS patients.

– Dr. Carmine Settembre

Telethon Institute of Genetics and Medicine of Fondazione Telethon Pozzuoli, Italy