A team at CHU Sainte-Justine Research Center have made a breakthrough discovery for Sanfilippo type C syndrome, a devastating disease that affects young children. They found that a defective protein is responsible for this congenital disease.
Sanfilippo type C syndrome is a genetic neurological disease that affects infants and young children. Currently, there is no treatment to alleviate the disease. This syndrome affects the lysosome, the organelle within the cell responsible for degradation and recycling of molecules. It causes neurodegeneration in toddlers, which leads to mental retardation and often death by the time they reach adulthood.
By conduction tests on cells, researchers showed that glucosamine can partially correct the defect which may slow progression of the disease.