Bone marrow transplantation prolongs life span and ameliorates neurologic manifestations in Sandhoff disease mice.

F Norflus, CJ Tifft, MP McDonald… - The Journal of …, 1998 - Am Soc Clin Investig
F Norflus, CJ Tifft, MP McDonald, G Goldstein, JN Crawley, A Hoffmann, K Sandhoff
The Journal of clinical investigation, 1998Am Soc Clin Investig
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 …
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.
The Journal of Clinical Investigation