Sphingosylphosphorylcholine in Niemann-Pick disease brain: Accumulation in type A but not in type B

Neurochemical Research

Volumn 24, Issue 2, 1999, Pages 199-205

  Rodriguez Lafrasse, Claire ^a   Vanier, Marie T ^a,b  

^a INSERM   (France)

^b CENTRE HOSPITALIER LYON SUD   (France)

Author keywords

Lysosphingomyelin; Niemann Pick disease; Sphingomyelin; Sphingomyelinase deficiency; Sphingosylphosphorylcholine

Indexed keywords

PHTHALALDEHYDE; SPHINGOMYELIN PHOSPHODIESTERASE; SPHINGOSINE DERIVATIVE; SPHINGOSYLPHOSPHORYLCHOLINE; UNCLASSIFIED DRUG;

ARTICLE; CHILD; CONTROLLED STUDY; HUMAN; HUMAN TISSUE; LIPID BRAIN LEVEL; LIVER; NEUROPATHY; NIEMANN PICK DISEASE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; SPLEEN;

BRAIN; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; HUMANS; INFANT; LIVER; NIEMANN-PICK DISEASES; PHOSPHORYLCHOLINE; SENSITIVITY AND SPECIFICITY; SPHINGOSINE; SPLEEN;

EID: 0032934036     PISSN: 03643190     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1022501702403     Document Type: Article

References (52)

1. Schuchman, E., and Desnick, R.J. 1995. Niemann-Pick disease types A and B: acid sphingomyelinase deficiencies. Pages 2601-2624, in C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (ed.) The Metabolic and Molecular Bases of Inherited Disease McGraw Hill: New York.
2. Vanier, M.T., and Suzuki, K. 1996. Niemann-Pick diseases. Pages 133-162, H.W. Moser, ed. Neurodystrophies and Neurolipidoses, Handbook of Clinical Neurology vol. 66, Elsevier Science: Amsterdam.
3. Kamoshita, A.S., Aron, A.M., Suzuki, K., and Suzuki, K. 1969. Infantile Niemann-Pick disease. A chemical study with isolation and characterization of membranous cytoplasmic bodies and myelin. Am. J. Dis. Child. 117: 379-394.
4. Brunngraber, E.G., Berra, B., and Zambotti, V. 1973. Altered levels of tissue glycoproteins, gangliosides, glycosaminoglycans and lipids in Niemann-Pick's disease. Clin. Chim. Acta 48: 173-181.
5. Vanier, M.T., Rousson, R., Zeitouni, R., Pentchev, P., and Louisot, P. 1986. Sphingomyelinase and Niemann-Pick disease. Pages 791-802, L Freysz, H. Dreyfus, R. Massarelli, S. Gatt, ed. Enzymes of Lipid Metabolism II, Plenum Press: New York.
6. Besley, G.T.N., and Elleder, M. 1986. Enzyme activities and phospholipid storage patterns in brain and spleen samples from Niemann-Pick disease variants: a comparison of neuropathic and non-neuropathic forms. J. Inherit. Metab. Dis. 9:59-71.
7. Vanier, M.T. and Svennerholm, L. 1975. Chemical pathology of Krabbe's disease: the occurrence of psychosine and other neutral sphingoglycolipids. Pages 115-126, B.W. Volk, L. Schneck, ed. Current Trends in Sphingolipidoses and Allied Disorders, New York: Plenum Press.
8. Svennerholm, L., Vanier, M.-T., and Månsson, J. -E. 1980. Krabbe disease: A galactosylsphingosine (psychosine) lipidosis. J. Lipid Res. 21:53-64.
9. Igisu, H., and Suzuki, K. 1984. Progressive accumulation of toxic metabolite in a genetic leukodystrophy. Science. 224:753-755.
10. Miyatake, T., and Suzuki, K. 1972. Globoid cell leukodystrophy: Additional deficiency of psychosine galactosidase. Biochem. Biophys. Res. Commun. 48:538-543.
11. Hannun, Y. A., and Bell, R. M. 1987. Lysosphingolipids inhibit protein kinase C: Implications for the sphingolipidoses. Science. 235:670-674.
12. Nilsson, O., and Svennerholm, L. 1982. Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease. J. Neurochem. 39:709-718.
13. Neuenhofer, S., Conzelmann, E., Schwarzmann, G., Egge, H., and Sandhoff, K. 1986. Occurrence of lysoganglioside lyso-GM2 (II3-Neu5Ac-gangliotriosylsphingosine) in GM2 gangliosidosis brain. Biol. Chem. Hoppe-Seyler. 367:241-244.
14. Rosengren, B., Månsson, J.-E., and Svennerholm, L. 1987. Composition of gangliosides and neutral glycosphingolipids of brain in classical Tay-Sachs and Sandhoff disease: More lyso-GM2 in Sandhoff disease? J. Neurochem. 49:834-840.
15. Kobayashi, T., Goto, I., Okada, S., Orii, T., Ohno, K., and Nakano, T. 1992. Accumulation of lysosphingolipids in tissues from patients with GM1 and GM2 gangliosidoses. J Neurochem. 59: 1452-1458.
16. Toda, K.-I., Kobayashi, T., Goto, I., Ohno, K., Eto, Y., Inui, K., and Okada, S. 1990. Lysosulfatide (sulfogalactosylsphingosine) accumulation in tissues from patients with metachromatic leukodystrophy. J Neurochem. 55:1585-1591.
17. Rosengren, B., Fredman, P., Månsson, J.-E., and Svennerholm, L. 1989. Lysosulfatide (galactosylsphingosine-3-O-sulfate) from metachromatic leukodystrophy and normal human brain. J. Neurochem. 1035-1041.
18. Strasberg, P.M., and Callahan, J.W. 1988. Psychosine and sphingosylphosphorylcholine bind to mitochondrial membranes and disrupt their function. Pages 601-606, R. Salvayre, L. DousteBlazy, S. Gatt, (ed) Lipid Storage Disorders Plenum Press: New York.
19. Rodriguez-Lafrasse, C., and Vanier, M.T. 1993. Sphingosyl-phosphorylcholine in Niemann-Pick disease brain: Accumulation in type A but not in type B. J. Neurochem. 61 (Suppl.): S101B
20. Landrieu, P., and Saïd, G. 1984. Peripheral neuropathy in type A Niemann-Pick disease. Acta Neuropathol. 63: 66-71
21. Labrune, P., Bedossa, P., Huguet, P., Roset, F., Vanier, M. T., and Odièvre, M. 1991. Fatal liver failure in two children with Niemann-Pick disease type B. J Ped. Gastroenter. Nutr. 13:104-109.
22. Vanier, M.T., Ferlinz, R., Rousson, R., Duthel, S., Louisot, P., Sandhoff, K., and Suzuki, K. 1993. Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa. Hum. Genet. 92: 325-330.
23. Vanier, M.T., and Svennerholm, L. 1972. The distribution of lipids in the human nervous system. II-Lipid composition of human foetal and infant brain. Brain Res. 47: 457-468.
24. Martin, J.J., Lowenthal, A., Ceuterick, C., and Vanier, M. T. 1984. Juvenile dystonic lipidosis (variant of Niemann-Pick disease type C) J. Neurol. Sci. 66:33-45.
25. Kaller, H. 1961. Preparative isolation of sphingosylphosphorylcholine. Biochem. Z. 334: 451-456.
26. Merrill, A.H., Wang, E., Mullins, R.E., Jamison, W.C., Nimkar, S., and Liotta D.C. 1988. Quantitation of free sphingosine in liver by high-performance liquid chromatography. Anal. Biochem. 171: 373-381.
27. Rodriguez-Lafrasse, C., Rousson, R., Pentchev, P.G., Louisot, P., and Vanier, M. T. 1994. Free sphingoid bases in tissues from patients with type C Niemann-Pick disease and other lysosomal storage disorders. Biochim. Biophys. Acta 1226: 138-144.
28. Vanier, M.T., Holm, M., Månsson, J.E., and Svennerholm, L. 1973. The distribution of lipids in the human nervous system- V. Gangliosides and allied neutral glycolipids of infant brain. J. Neurochem. 21: 1375-1384.
29. Pentchev, P.G., Vanier, M.T., Suzuki, K., and Patterson, M. 1995. Niemann-Pick disease type C: a cellular cholesterol lipidosis. Pages 2625-2639. In C. R. Scriver, A. L. Beaudet, W. S. Sly, D. Valle, (ed.) The Metabolic and Molecular Bases of Inherited Disease. McGraw Hill: New York.
30. Vanier, M. T., Rousson, R., Garcia, I., Bailloud, G., Juge, M. C., Revol, A., and Louisot, P. 1985. Biochemical studies in Niemann-Pick disease. III. In vitro and in vivo assays of sphingomyelin degradation in cultured skin fibroblasts and amniotic fluid cells for the diagnosis of the various forms of the disease. Clin. Genet. 27: 20-32.
31. Graber D., Salvayre, R., and Levade, T. 1994. Accurate differentiation of neuronopathic and nonneuronopathic forms of Niemann-Pick disease by evaluation of the effective residual lysosomal sphingomyelinase activity in intact cells. J. Neurochem. 63: 1060-1068.
32. Conzelmann, E., and Sandhoff, K. 1983. Partial enzyme deficiencies: residual activities and the development of neurological disorders. Dev. Neurosci. 6: 58-71.
33. Kobayashi, T., Goto, I., Yamanaka, T., Suzuki, Y., Nakano, T., and Suzuki, K. 1988. Infantile and fetal globoid cell leukodystrophy: analysis of galactosylceramide and galactosylsphingosine. Ann. Neurol. 24: 5217-522.
34. Matsumoto, A., Vanier, M.T., Oya, Y., Kelly, D., Popko, B., Wenger, D.A., Suzuki, K., and Suzuki, K. 1997. Transgenic introduction of human galactosylceramidase into twitcher mouse: significant phenotype improvement with a minimal expression. Dev. Brain Dysfunct., 10: 142-154.
35. Rodriguez-Lafrasse, C., Rousson, R., Valla, S., Antignac, P., Louisot, P., and Vanier, M. T. 1997. Modulation of protein kinase C by endogenous sphingosine: inhibition of phorbol dibutyrate binding in Niemann-Pick C fibroblasts. Biochem. J. 325: 787-791.
36. Horinouchi, K., Ehrlich, S., Perl, D. P., Ferlinz, K., Bisgaier, C. L., Sandhoff, K., Desnick, R. J., Stewart, C. L., and Schuchman, E. H. 1995. Acid sphingomyelinase-deficient mice: a model of types A and B Niemann-Pick disease. Nature Gen. 10: 288-293.
37. Suzuki, K. 1998. Twenty five years of the «psychosine hypothesis»: a personal perspective of its history and present status. Neurochem. Res. 23: 251-259.
38. Fujino, Y., Negishi, T., and Ito, S. 1968. Enzymatic synthesis of sphingosylphosphorylcholine. Biochem. J. 109: 310-311.
39. Stoffel, W., and Melzner, I. 1980. Studies in vitro on the biosynthesis of ceramide and sphingomyelin: a reevaluation of proposed pathways. HoppeSeyler's Z. Physiol. Chem. 361: 755-771.
40. Marggraf, W. and Kanfer, J.N. 1984. The phosphorylcholine acceptor in the phosphatidylcholine: ceramide choline phosphotransferase reaction. Is the enzyme a transferase or a hydrolase. Biochim. Biophys. Acta 793: 346-353.
41. Futerman, A.H., Stieger, B., Hubbard, A.L., and Pagano, R. E. 1990. Sphingomyelin synthesis in rat liver occurs predominantly at the cis and medial cisternae of the Golgi apparatus. J. Biol. Chem. 265: 8650-8657.
42. Pentchev, P.G., Brady, R.O., Gal, A.E., and Hibbert, S. R. 1977. The isolation and characterization of sphingomyelinase from human placental tissue. Biochim. Biophys. Acta. 488: 312-321.
43. Yamanaka, T., and Suzuki, K. 1982. Acid sphingomyelinase of human brain: Purification to homogeneity. J. Neurochem. 38: 1753-1764.
44. Quintern, L.E., Weitz, G., Nehrkorn, H., Tager, J.M., Schram, A.W., and Sandhoff, K. 1987. Acid sphingomyelinase from human urine: purification and characterization. Biochim. Biophys. Acta 922: 323-326.
45. Callahan, J.W., Gerrie, J., Jones, C.S., and Shankaran, P. 1981. Studies on the hydrophobic properties of sphingomyelinase. Biochem. J. 193: 275-283.
46. Strasberg, P.M., and Callahan, J.W. 1988. Lysosphingolipids and mitochondrial function. II. Deleterious effects of sphingosylphosphorylcholine. Biochem. Cell Biol. 66: 1322-1332.
47. Sugiyama, E., Uemura, K.I., Hara, A., Taketomi, T. 1993. Metabolism and neurite promoting effect of exogenous sphingosylphosphorylcholine in cultured murine neuroblastoma cells. J. Biochem. 113: 467-472.
48. Desai, N., and Spiegel, S. 1991. Sphingosylphosphorylcholine is a remarkably potent mitogen for a variety of cell lines. Biochem. Biophys. Res. Commun. 181: 361-366.
49. Desai, N.N., Carlson, R.O., Mattie, M.E., Olivera, A., Buckley, N.E., Seki, T., Brooker, G., and Spiegel, S. 1993. Signaling pathways for sphingosylphosphorylcholine-mediated mitogenesis in Swiss 3T3 fibroblasts. J. Cell Biol. 121: 1385-1394.
50. Gosh, T.K., Bian, J., and Gill, D.H. 1990. Intracellular calcium release mediated by sphingosine derivatives generated in cells. Science 248: 1653-1656.
51. Berger, A., Rosenthal, D., and Spiegel, S. 1995. Sphingosylphosphorylcholine, a signaling molecule which accumulates in Niemann-Pick disease type A, stimulates DNA-binding activity of the transcription activator protein AP-1. Proc. Natl. Acad. Sci. USA 92: 5885-5889.
52. Berger, A., Cultaro, C.M., Segal, S., and Spiegel, S., 1998. The potent lipid mitogen sphingosylphosphocholine activates the DNA binding activity of upstream stimulating factor (USF), a basic helix-loop-helix-zipper protein. Biochim. Biophys. Acta 1390: 225-236.