Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse

Human Molecular Genetics

Volumn 9, Issue 7, 2000, Pages 1087-1092

  Liu, Yujing ^b   Wu, Yun Ping ^a   Wada, Ryuichi ^b   Neufeld, Edward B ^b   Mullin, Katherine A ^b   Howard, April C ^b   Pentchev, Peter G ^c   Vanier, Marie T ^d   Suzuki, Kinuko ^a   Proia, Richard L ^b  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^c NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^d INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; GANGLIOSIDE; GLYCOLIPID; SPHINGOLIPID;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CONTROLLED STUDY; DEGENERATIVE DISEASE; DISEASE COURSE; ELECTRON MICROSCOPY; GENE MUTATION; GENE TARGETING; LIPID STORAGE; MOUSE; NIEMANN PICK DISEASE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL;

ANIMALIA;

EID: 0034639928     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.7.1087     Document Type: Article

References (30)

1. Pentchev, P.G., Vanier, M.T., Suzuki, K. and Patterson, M.C. (1995) In Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D. (eds), The Metabolic and Molecular Basis of Inherited Disease. McGraw-Hill Inc., New York, NY, 7th edn. pp. 2625-2639.
2. Vanier, M.T. and Suzuki, K. (1998) Recent advances in elucidating Niemann-Pick C disease. Brain Pathol., 8, 163-174.
3. Carstea, E.D., Morris, J.A., Coleman, K.G., Loftus, S.K., Zhang, D., Cummings, C., Gu, J., Rosenfeld, M.A., Pavan, W.J., Krizman, D.B. et al. (1997) Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science, 277, 228-231.
4. Loftus, S.K., Morris, J.A., Carstea, E.D., Gu, J.Z., Cummings, C., Brown, A., Ellison, J., Ohno, K., Rosenfeld, M.A., Tagle, D.A. et al. (1997) Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene. Science, 277, 232-235.
5. Pentchev, P.G., Comly, M.E., Kruth, H.S., Tokoro, T., Butler, J., Sokol, J., Filling-Katz, M., Quirk, J.M., Marshall, D.C., Patel, S. et al. (1987) Group C Niemann-Pick disease: faulty regulation of low-density lipoprotein uptake and cholesterol storage in cultured fibroblasts. FASEB J., 1, 40-45.
6. Liscum, L. and Faust, J.R. (1987) Low density lipoprotein (LDL)-mediated suppression of cholesterol synthesis and LDL uptake is defective in Niemann-Pick type C fibroblasts. J. Biol. Chem., 262, 17002-17008.
7. Vanier, M.T. (1999) Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature. Neurochem. Res., 24, 481-489.
8. Siegel, D.A. and Walkley, S.U. (1994) Growth of ectopic dendrites on cortical pyramidal neurons in neuronal storage diseases correlates with abnormal accumulation of GM2 ganglioside. J. Neurochem., 62, 1852-1862.
9. Walkley, S.U. (1995) Pyramidal neurons with ectopic dendrites in storage diseases exhibit increased GM2 ganglioside immunoreactivity. Neuroscience, 68, 1027-1035.
10. Walkley, S.U., Siegel, D.A. and Dobrenis, K. (1995) GM2 ganglioside and pyramidal neuron dendritogenesis. Neurochem. Res., 20, 1287-1299.
11. Walkley, S.U., Siegel, D.A., Dobrenis, K. and Zervas, M. (1998) GM2 ganglioside as a regulator of pyramidal neuron dendritogenesis. Ann. N. Y. Acad. Sci., 845, 188-199.
12. Liu, Y., Wada, R., Kawai, H., Sango, K., Deng, C., Tai, T., McDonald, M.P., Araujo, K., Crawley, J.N., Bierfreund, U. et al. (1999) A genetic model of substrate deprivation therapy for a glycosphingolipid storage disorder. J. Clin. Invest., 103, 497-505.
13. Pentchev, P.G., Boothe, A.D., Kruth, H.S., Weintroub, H., Stivers, J. and Brady, R.O. (1984) A genetic storage disorder in BALB/C mice with a metabolic block in esterification of exogenous cholesterol. J. Biol. Chem., 259, 5784-5791.
14. Weintraub, H., Abramovici, A., Sandbank, U., Pentchev, P.G., Brady, R.O., Sekine, M., Suzuki, A. and Sela, B. (1985) Neurological mutation characterized by dysmyelination in NCTR-Balb/C mouse with lysosomal lipid storage disease. J. Neurochem., 45, 665-672.
15. Pentchev, P.G., Comly, M.E., Kruth, H.S., Patel, S., Proestel, M. and Weintroub, H. (1986) The cholesterol storage disorder of the mutant BALB/ c mouse. A primary genetic lesion closely linked to defective esterification of exogenously derived cholesterol and its relationship to human type C Niemann-Pick disease. J. Biol. Chem., 261, 2772-2777.
16. Weintraub, H., Abramovici, A., Sandbank, U., Booth, A.D., Pentchev, P.G. and Sela, B. (1987) Dysmyelination in NCTR-Balb/C mouse mutant with a lysosomal storage disorder. Morphological survey. Acta Neuropathol. (Berl.), 74, 374-381.
17. Higashi, Y., Murayama, S., Pentchev, P.G. and Suzuki, K. (1993) Cerebellar degeneration in the Niemann-Pick type C mouse. Acta Neuropathol. (Berl.), 85, 175-184.
18. Higashi, Y., Pentchev, P.G., Murayama, S. and Suzuki, K. (1991) In Ikuta, F. (ed.), Neuropathology in Brain Research. Elsevier Science Publishing, Amsterdam, The Netherlands, pp. 85-102.
19. Sheikh, K.A., Sun, J., Liu, Y., Kawai, H., Crawford, T.O., Proia, R.L., Griffin, J.W. and Schnaar, R.L. (1999) Mice lacking complex gangliosides develop Wallerian degeneration and myelination defects. Proc. Natl Acad. Sci. USA, 96, 7532-7537.
20. Higgins, M.E., Davies, J.P., Chen, F.W. and Ioannou, Y.A. (1999) Niemann-Pick C1 is a late endosome-resident protein that transiently associates with lysosomes and the trans-golgi network. Mol. Genet. Metab., 68, 1-13.
21. Neufeld, E.B., Wastney, M., Patel, S., Suresh, S., Cooney, A.M., Dwyer, N.K., Roff, C.F., Ohno, K., Morris, J.A., Carstea, E.D. et al. (1999) The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo. J. Biol. Chem., 274, 9627-9635.
22. Yano, T., Taniguchi, M., Akaboshi, S., Vanier, M.T., Tai, T., Sakuraba, H. and Ohno, K. (1996) Accumulation of GM2 ganglioside in Niemann-Pick disease type C fibroblasts. Proc. Jpn Acad. B, 72, 214-219.
23. Sato, M., Akaboshi, S., Katsumoto, T., Taniguchi, M., Higaki, K., Tai, T., Sakuraba, H. and Ohno, K. (1998) Accumulation of cholesterol and GM2 ganglioside in cells cultured in the presence of progesterone: an implication for the basic defect in Niemann-Pick disease type C. Brain Dev., 20, 50-52.
24. Tint, G.S., Pentchev, P., Xu, G., Batta, A.K., Shefer, S., Salen, G. and Honda, A. (1998) Cholesterol and oxygenated cholesterol concentrations are markedly elevated in peripheral tissue but not in brain from mice with the Niemann-Pick type C phenotype. J. Inherit. Metab. Dis., 21, 853-863.
25. Platt, F.M. and Butters, T.D. (1998) New therapeutic prospects for the glycosphingolipid lysosomal storage diseases. Biochem. Pharmcol., 56, 421-430.
26. Platt, F.M., Neises, G.R., Reinkensmeier, G., Townsend, M.J., Perry, V.H., Proia, R.L., Winchester, B., Dwek, R.A. and Butters, T.D. (1997) Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin. Science, 276, 428-431.
27. Jeyakumar, M., Butters, T.D., Cortina-Borja, M., Hunnam, V., Proia, R.L., Perry, V.H., Dwek, R.A. and Platt, F.M. (1999) Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin. Proc. Natl Acad. Sci. USA, 96, 6388-6393.
28. Fujita, N., Suzuki, K., Vanier, M.T., Popko, B., Maeda, N., Klein, A., Henseler, M., Sandhoff, K. and Nakayasu, H. (1996) Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids. Hum. Mol. Genet., 5, 711-725.
29. Kyrklund, T. (1987) Two procedures to remove polar contaminants from a crude brain lipid extract by using prepacked reversed-phase columns. Lipids, 22, 274-277.
30. 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.