Effect of bone marrow transplantation on enzyme levels and clinical course in the neurologically affected twitcher mouse

J Clin Invest. 1988 Jun;81(6):1790-4. doi: 10.1172/JCI113521.

Abstract

The effect of allogeneic bone marrow transplantation (BMT) was investigated in the neurologically affected twitcher mouse, a model for human Krabbe's disease. Twitcher mice have a hereditary deficiency of the lysosomal enzyme galactosylceramidase, which causes growth delay, tremor, and paralysis of the hind legs. Death occurs at 30-40 d of age. After BMT galactosylceramidase activity increased to donor levels in hemopoietic organs. In lung, heart, and liver, galactosylceramidase activity rose to levels intermediate between those of twitcher and normal mice. Increased galactosylceramidase activity in liver parenchymal cells indicated uptake of the donor enzyme by recipient cells of nonhemopoietic origin. Enzyme activity also increased in kidney tissue. BMT resulted in a gradual increase in galactosylceramidase activity in the central nervous system to 15% of normal donor levels. A 5-6-fold increase in galactosylceramidase activity was found in the peripheral nervous system. This increase in enzyme activity was accompanied by a partial alleviation of neurological symptoms. In particular, paralysis of the hind legs was prevented by BMT. BMT led to a modest restoration of growth and prolonged survival. In several cases, the mice survived for more than 100 d, but eventually all animals died with severe neurological disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Bone Marrow / enzymology
  • Bone Marrow Transplantation*
  • Central Nervous System / enzymology
  • Disease Models, Animal
  • Female
  • Galactosidases / deficiency*
  • Galactosylceramidase / biosynthesis
  • Galactosylceramidase / deficiency*
  • Kidney / enzymology
  • Leukodystrophy, Globoid Cell / enzymology*
  • Leukodystrophy, Globoid Cell / therapy
  • Liver / enzymology
  • Lung / enzymology
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Neurologic Mutants
  • Myocardium / enzymology
  • Spleen / enzymology

Substances

  • Galactosidases
  • Galactosylceramidase