Published in Volume
101, Issue 9 (May 1, 1998)
J Clin Invest. 1998;101(9):1881–1888.
doi:10.1172/JCI2127.
Copyright ©
1998, The American Society for
Clinical Investigation.
Research Article
Bone marrow transplantation prolongs life span and ameliorates neurologic manifestations in Sandhoff disease mice.
F Norflus, C J Tifft, M P McDonald, G Goldstein, J N Crawley, A Hoffmann, K Sandhoff, K Suzuki and R L Proia
Genetics and Biochemistry Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA.
Published May 1, 1998
The GM2 gangliosidoses are a group of severe, neurodegenerative conditions that include Tay-Sachs disease, Sandhoff disease, and the GM2 activator deficiency. Bone marrow transplantation (BMT) was examined as a potential treatment for these disorders using a Sandhoff disease mouse model. BMT extended the life span of these mice from approximately 4.5 mo to up to 8 mo and slowed their neurologic deterioration. BMT also corrected biochemical deficiencies in somatic tissues as indicated by decreased excretion of urinary oligosaccharides, and lower glycolipid storage and increased levels of beta-hexosaminidase activity in visceral organs. Even with neurologic improvement, neither clear reduction of brain glycolipid storage nor improvement in neuronal pathology could be detected, suggesting a complex pathogenic mechanism. Histological analysis revealed beta-hexosaminidase-positive cells in the central nervous system and visceral organs with a concomitant reduction of colloidal iron-positive macrophages. These results may be important for the design of treatment approaches for the GM2 gangliosidoses.