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Enzyme Deficiency Causes Neurodegeneration

A new therapeutic approach may one day delay neurodegeneration typical of a disease called mucopolysaccharidoses IIIB (MPS IIIB). Neurodegeneration in this condition results from the abnormal accumulation of essential cellular molecules called mucopolysaccharides. Looking to find alternative therapeutic strategies for this rare genetic disease, a team of researchers investigated whether enhancing the cells' ability to clear accumulation of cellular waste would help eliminate the abnormal storage of mucopolysaccharides.

The study was published in the journal Autophagy, that the sugar trehalose increases cellular waste disposal and improves the neurological symptoms in a mouse model of the disease. MPS IIIB is one of about 50 lysosomal storage disorders characterized by the accumulation of material inside tiny cellular sacs called lysosomes. In the case of MPS IIIB, a mutation on a gene that codes for a lysosomal enzyme that breaks down a cellular material called heparan sulfate renders the enzyme ineffective.