Advertisement

Nervous System Origin of Renal Galactosylceramide in the Twitcher Mouse Mutant

  • M. Katayama
  • D. S. Siegel
  • K. Suzuki
Part of the NATO ASI Series book series (NSSA, volume 142)

Abstract

Globoid cell leukodystrophy (GLD, Krabbe disease) is a rare genetic disorder caused by a catalyc deficiency of galactosylceramide (EC 3.2.1.46) (Suzuki and Suzuki, 1970). One of the unusual features of the disease is the absence of abnormal accumulation of galactosylceramide in the nervous system or in the kidney despite the genetic block in its degradative pathway (Suzuki, 1971; Vanier and Svennerholm, 1974). Genetically equivalent diseases with similar clinical and pathological manifestations occur in the dog, mouse, sheep, and probably also in the cat (Suzuki and Suzuki, 1985). In the central nervous system of affected dogs and mice, abnormal accumulation of galactosylceramide also does not occur. In contrast, an enormous accumulation of galactosylceramide is observed in the kidney of affected mice (the twitcher mutant) (Ida et al., 1982; Igisu et al., 1983) and to a lesser extent in the kidney of affected dogs (Igisu, Katayama and Suzuki, unpublished observations).

Keywords

Genetic Status Abnormal Accumulation Radioactivity Incorporation Twitcher Mouse Affected Mouse 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Abramson, M. B., Norton, W. T., and Katzman, R., 1965, Study of ionic structures in phospholipids by infrared spectra, J.Biol.Chem., 240: 2389–2395.Google Scholar
  2. Folch-Pi, J., Lees, M. B., and Sloane-Stanley, G. H., 1957, A simple method for the isolation and purification of total lipids from animal tissue, J.Biol.Chem., 226: 497–509.Google Scholar
  3. Ida, H., Umezawa, F., Kasai, E., Eto, Y., and Maekawa, K., 1982, An accumulation of galactocerebroside in kidney from mouse globoid cell leuko distrophy (twitcher), Biochem.Biophys.Res.Commun., 109: 634–638.CrossRefGoogle Scholar
  4. Igisu, H. and Suzuki, K., 1984a, Progressive accumulation of toxic metabolite in a genetic leukodistrophy, Science, 224: 753–755.CrossRefGoogle Scholar
  5. Igisu, H. and Suzuki, K., 1984b, Glycolipids of the spinal cord, sciatic nerve, and systemic organs of twitcher mouse, J.Neuropath.Exp.Neurol., 43: 22–36.CrossRefGoogle Scholar
  6. Igisu, H., Takahashi, H., Suzuki, K., and Suzuki, K., 1983, Abnormal accumulation of galactosylceramide in the kidney of twitcher mouse, Biochem.Biophys.Res.Commun., 110: 940–944.CrossRefGoogle Scholar
  7. Kobayashi, T., Yamanaka, T., Jacobs, J. M., Teixeira, F., and Suzuki, K., 1980, The twitcher mouse: An enzymatically authentic model of human globoid cell leukodystrophy (Krabbe disease), Brain Res., 202: 479–483.CrossRefGoogle Scholar
  8. Kobayashi, T., Nagara, H., Suzuki, K., and Suzuki, K., 1982, The twitcher mouse: Determination of genetic status by galactosylceramidase assay on clipped tail, Biochem.Med., 27: 8–14.CrossRefGoogle Scholar
  9. Kobayashi, T., Shinnon, N., Goto, I., Kuroiwa, Y., Okawauchi, M., Sugihara, T., and Tanaka, M., 1985a, Galactosylceramide and lactosylceramide-loading studies in cultured fibroblasts from normal individuals and patients with globoid cell leukodystrophy (Krabbe’s disease), Biochim.Biophys.Acta, 835: 456–464.CrossRefGoogle Scholar
  10. Kobayashi, T., Shinnon, N., Goto, I., Kuroiwa, Y., 1985b, Hydrolysis of galactosylceramide is catalyzed by two genetically distinct acid β-galactosidases, J.Biol.Chem., 260: 14982–14987.Google Scholar
  11. Miyatake, T. and Suzuki, K., 1972, Globoid cell leukodystrophy: Additional deficiency of psychosine galactosidase, Biochem.Biophys.Res.Commun., 48: 538–543.CrossRefGoogle Scholar
  12. Norton, W. T. and Autilio, L. A., 1965, The chemical composition of bovine CNS myelin, Ann.N.Y.Acad.Sci., 122: 77–85.CrossRefGoogle Scholar
  13. Suzuki, K., 1971, Renal cerebroside in globoid cell leukodystrophy (Krabbe’s disease), Lipids, 6: 433–436.CrossRefGoogle Scholar
  14. Suzuki, K. and Suzuki, Y., 1970, Globoid cell leucodystrophy (Krabbe’s disease): Deficiency of galactocerebroside β-galactosidase, Proc.Natl. Acad.Sci.U.S.A., 66: 302–309.CrossRefGoogle Scholar
  15. Suzuki, K. and Suzuki, Y., 1983, Galactosylceramide lipidosis: Globoid cell leukodystrophy (Krabbe’s disease), in: “The metabolic Basis of Inherited Disease”, 5th edition, J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, J. L. Goldstein and M. S. Brown, eds., McGraw-Hill, New York.Google Scholar
  16. Suzuki, K. and Suzuki, K., 1985, A review: Genetic galactosylceramidase deficiency (globoid cell leukodystrophy, Krabbe disease) in different mammalian species, Neurochem.Path., 3: 53–68.CrossRefGoogle Scholar
  17. Suzuki, K., Suzuki, K., and Kamoshita, S., 1969, Chemical pathology of GM1-gangliosidosis (generalized gangliosidosis), J.Neuropath. Exp.Neurol., 28: 25–73.CrossRefGoogle Scholar
  18. Svennerholm, L., Vanier, M. T., and Mansson, J.-E., 1980, Krabbe disease: A galactosylsphingosine (psychosine) lipidosis, J.Lipid Res., 21: 53–64.Google Scholar
  19. Takahashi, H., Igisu, H., Suzuki, K., and Suzuki, K., 1983, Murine globoid cell leukodystrophy (the twitcher mouse): Presence of characteristic inclusions in kidney and lymph nodes, Am.J.Path., 112: 147–154.Google Scholar
  20. Takanashi, H., Igisu, H., Suzuki, K., and Suzuki, K., 1984, Murine globoid cell leukodystrophy: The twitcher mouse. An ultrastructu-ral study of the kidney, Lab.Invest., 50: 42–50.Google Scholar
  21. Vanier, M. T., and Svennerholm, 1974, Chemical pathology of Krabbe’s disease. I. Lipid composition and fatty acid patterns of phosphoglycerides in brain, Acta Paediat.Scand., 63: 469–500.Google Scholar

Copyright information

© Plenum Press, New York 1987

Authors and Affiliations

  • M. Katayama
    • 1
    • 2
  • D. S. Siegel
    • 1
    • 2
  • K. Suzuki
    • 1
    • 2
  1. 1.The Saul R. Korey Dept. of Neurology, Dept. of Neuroscience and the Rose F. Kennedy Center for Research in Mental Retardation and Human DevelopmentAlbert Einstein College of MedicineBronxUSA
  2. 2.The Biological Sciences Researches Center Departments of Neurology and PsychiatryUniversity of North CarolinaChapel HillUSA

Personalised recommendations