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The glycosphingolipid (GSL) lysosomal storage diseases result from the inheritance of defects in the genes encoding the enzymes required for catabolism of GSLs within lysosomes. A strategy for the treatment of these diseases, based on an inhibitor of GSL biosynthesis N-butyldeoxynojirimycin, was evaluated in a mouse model of Tay-Sachs disease. When Tay-Sachs mice were treated with N-butyldeoxynojirimycin, the accumulation of GM2 in the brain was prevented, with the number of storage neurons and the quantity of ganglioside stored per cell markedly reduced. Thus, limiting the biosynthesis of the substrate (GM2) for the defective enzyme (beta-hexosaminidase A) prevents GSL accumulation and the neuropathology associated with its lysosomal storage.

Original publication

DOI

10.1126/science.276.5311.428

Type

Journal article

Journal

Science

Publication Date

18/04/1997

Volume

276

Pages

428 - 431

Keywords

1-Deoxynojirimycin, Animals, Blood-Brain Barrier, Brain, Disease Models, Animal, Enzyme Inhibitors, G(M2) Ganglioside, Lysosomes, Mice, Microscopy, Electron, Neurons, Tay-Sachs Disease