Emerging pathways of neurodegeneration in Sanfilippo syndrome

Sanfilippo syndrome is a rare genetic neurodegenerative disease that primarily affects children, causing a form of childhood dementia with progressive loss of previously acquired psychomotor skills. It is caused by the accumulation of heparan sulfate, a complex sugar, in the brain due to the lack of the enzyme responsible for its degradation. The defective breakdown of this sugar leads to the formation of residues that accumulate inside and outside the lysosome and may contribute to cell death. Our project aims to identify molecules capable of inhibiting the production or activity of these residues in order to prevent neuronal death and dementia.