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

J Clin Invest. 1998 May 1;101(9):1881-8. doi: 10.1172/JCI2127.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Behavior, Animal
  • Bone Marrow Transplantation*
  • Brain Chemistry
  • Cerebral Cortex / pathology
  • Disease Models, Animal
  • Glycolipids / analysis
  • Longevity
  • Mice
  • Mice, Mutant Strains
  • Oligosaccharides / urine
  • Sandhoff Disease / mortality
  • Sandhoff Disease / therapy*
  • Survival Analysis
  • beta-N-Acetylhexosaminidases / deficiency*
  • beta-N-Acetylhexosaminidases / genetics

Substances

  • Glycolipids
  • Oligosaccharides
  • beta-N-Acetylhexosaminidases