In Vivo Brain NMR Spectroscopy of Alpha-Mannosidosis in a Feline model
Magnitsky S, Vite C, Aleman D, Poptani H, Pickup S, Wolfe J
The University of Pennsylvania
A mutation in the MANB gene causes the lysosomal storage disease alpha-mannosidosis (AMD). In the brain, it leads to accumulation of mannose-rich oligosaccharides, swelling of neurons and glia, neuronal loss, gliosis and demyelination. In vivo NMR spectroscopy was performed in normal and AMD affected cat brains. A significant increase of signal intensity at 2.02 and 3.6 ppm was detected in the cortex and cerebellum of affected animals. The increased intensity of these signals may be due to the high concentration of mannose-rich oligosaccharides in these animals. We conclude that 1H-MRS studies may assist in diagnosis of AMD disease.