Genetic variations and treatments that affect the lifespan of the NPC1 mouse

Journal of Lipid Research

Volumn 49, Issue 3, 2008, Pages 663-669

  Liu, Benny ^a   Li, Hao ^a   Repa, Joyce J ^a   Turley, Stephen D ^a   Dietschy, John M ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

Allopregnanolone; Cyclodextrin; Gangliosides; Lysosomes; Neurodegeneration; Niemann Pick type C1 disease; Nuclear receptors; Purkinje cells

Indexed keywords

3ALPHA HYDROXY 5ALPHA PREGNAN 20 ONE; CYCLODEXTRIN; LIVER X RECEPTOR AGONIST; LIVER X RECEPTOR BETA; CELL RECEPTOR; DNA BINDING PROTEIN; ELTANOLONE; HAEMATOSIDE SYNTHETASE; LIVER X RECEPTOR; NPC1 PROTEIN, MOUSE; PROTEIN; SIALYLTRANSFERASE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CONTROLLED STUDY; GENE DELETION; GENE MUTATION; GENETIC DRIFT; GENETIC VARIABILITY; LIFESPAN; MOUSE; NERVE DEGENERATION; NIEMANN PICK DISEASE; NONHUMAN; PRIORITY JOURNAL; STRAIN DIFFERENCE; ANIMAL; DEGENERATIVE DISEASE; DRUG POTENTIATION; GENETICS; LONGEVITY; MOUSE MUTANT; TREATMENT OUTCOME;

ANIMALS; CYCLODEXTRINS; DNA-BINDING PROTEINS; GENE DELETION; LONGEVITY; MICE; MICE, KNOCKOUT; NEURODEGENERATIVE DISEASES; NIEMANN-PICK DISEASES; PREGNANOLONE; PROTEINS; RECEPTORS, CYTOPLASMIC AND NUCLEAR; SIALYLTRANSFERASES; TREATMENT OUTCOME; VARIATION (GENETICS);

EID: 42949148332     PISSN: 00222275     EISSN: 15397262     Source Type: Journal    
DOI: 10.1194/jlr.M700525-JLR200     Document Type: Article

References (21)

1. Patterson, M. C., M. T. Vanier, K. Suzuki, J. A. Morris, E. Carstea, E. B. Neufeld, E. J. Blanchette-Mackie, and P. G. Pentchev. 2001. Niemann-Pick disease type C: a lipid trafficking disorder. In The Metabolic and Molecular Bases of Inherited Disease. C. R. Scriver, A. L. Beaudet, W. S. Sly, D. Valle, B. Childs, K. W. Kinzler, and B. Vogelstein, editors. McGraw Hill, New York. 3611-3633.
2. Loftus, S. K., J. A. Morris, E. D. Carstea, J. Z. Gu, C. Cummings, A. Brown, J. Ellison, K. Ohno, M. A. Rosenfeld, D. A. Tagle, et al. 1997. Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene. Science. 277: 232-235.
3. Pentchev, P. G., A. D. Boothe, H. S. Kruth, H. Weintroub, J. Stivers, and R. O. Brady. 1984. A genetic storage disorder in BALB/c mice with a metabolic block in esterification of exogenous cholesterol. J. Biol. Chem. 259: 5784-5791.
4. Xie, C., S. D. Turley, P. G. Pentchev, and J. M. Dietschy. 1999. Cholesterol balance and metabolism in mice with loss of function of Niemann-Pick C protein. Am. J. Physiol. 276: E336-E344.
5. Xie, C., D. K. Burns, S. D. Turley, and J. M. Dietschy. 2000. Cholesterol is sequestered in the brains of mice with Niemann-Pick type C disease but turnover is increased. J. Neuropathol. Exp. Neurol. 59: 1106-1117.
6. Li, H., J. J. Repa, M. A. Valasek, E. P. Beltroy, S. D. Turley, D. C. German, and J. M. Dietschy. 2005. Molecular, anatomical, and biochemical events associated with neurodegeneration in mice with Niemann-Pick type C disease. J. Neuropathol. Exp. Neurol. 64: 323-333.
7. Beltroy, E. P., J. A. Richardson, J. D. Horton, S. D. Turley, and J. M. Dietschy. 2005. Cholesterol accumulation and liver cell death in mice with Niemann-Pick type C disease. Hepatology. 42: 886-893.
8. Beltroy, E. P., B. Liu, J. M. Dietschy, and S. D. Turley. 2007. Lysosomal unesterified cholesterol content correlates with liver cell death in murine Niemann-Pick type C disease. J. Lipid Res. 48: 869-881.
9. Xie, C., S. D. Turley, and J. M. Dietschy. 2000. Centripetal cholesterol flow from the extrahepatic organs through the liver is normal in mice with mutated Niemann-Pick type C protein (NPC1). J. Lipid Res. 41: 1278-1289.
10. Xie, C., J. A. Richardson, S. D. Turley, and J. M. Dietschy. 2006. Cholesterol substrate pools and steroid hormone levels are normal in the face of mutational inactivation of NPC1 protein. J. Lipid Res. 47: 953-963.
11. Ishibashi, S., M. S. Brown, J. L. Goldstein, R. D. Gerard, R. E. Hammer, and J. Herz. 1993. Hypercholesterolemia in low density lipoprotein receptor knockout mice and its reversal by adenovirus-mediated gene delivery. J. Clin. Invest. 92: 883-893.
12. Yamashita, T., Y-P. Wu, R. Sandhoff, N. Werth, H. Mizukami, J. M. Ellis, J. L. Dupree, R. Geyer, K. Sandhoff, and R. L. Proia. 2005. Interruption of ganglioside synthesis produces central nervous system degeneration and altered axon-glial interactions. Proc. Natl. Acad. Sci. USA. 102: 2725-2730.
13. Repa, J. J., S. D. Turley, J-M. A. Lobaccaro, J. Medina, L. Li, K. Lustig, B. Shan, R. A. Heyman, J. M. Dietschy, and D. J. Mangelsdorf. 2000. Regulation of absorption and ABC1-mediated efflux of cholesterol by RXR heterodimers. Science. 289: 1524-1529.
14. Christiansen-Weber, T. A., J. R. Voland, Y. Wu, K. Ngo, B. L. Roland, S. Nguyen, P. A. Peterson, and W-P. Fung-Leung. 2000. Functional loss of ABCA1 in mice causes severe placental malformation, aberrant lipid distribution, and kidney glomerulonephritis as well as high-density lipoprotein cholesterol deficiency. Am. J. Pathol. 157: 1017-1029.
15. Griffin, L. D., W. Gong, L. Verot, and S. H. Mellon. 2004. Niemann-Pick type C disease involves disrupted neurosteroidogenesis and responds to allopregnanolone. Nat. Med. 10: 704-711.
16. Liu, B., C. Xie, J. A. Richardson, S. D. Turley, and J. M. Dietschy. 2007. Receptor-mediated and bulk-phase endocytosis cause macrophage and cholesterol accumulation in Niemann-Pick C disease. J. Lipid Res. 48: 1710-1723.
17. Zervas, M., K. Dobrenis, and S. U. Walkley. 2001. Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations. J. Neuropathol. Exp. Neurol. 60: 49-64.
18. Whitney, K. D., M. A. Watson, J. L. Collins, W. G. Benson, T. M. Stone, M. J. Numerick, T. K. Tippin, J. G. Wilson, D. A. Winegar, and S. A. Kliewer. 2002. Regulation of cholesterol homeostasis by the liver X receptors in the central nervous system. Mol. Endocrinol. 16: 1378-1385.
19. Liu, Y., Y-P. Wu, R. Wada, E. B. Neufeld, K. A. Mullin, A. C. Howard, P. G. Pentchev, M. T. Vanier, K. Suzuki, and R. L. Proia. 2000. Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse. Hum. Mol. Genet. 9: 1087-1092.
20. Repa, J. J., H. Li, T. C. Frank-Cannon, M. A. Valasek, S. D. Turley, M. G. Tansey, and J. M. Dietschy. 2007. LXR activation enhances cholesterol loss from the brain, decreases neuroinflammation and increases survival of the NPC1 mouse. J. Neurosci. In press.
21. Simons, K., and W. L. C. Vaz. 2004. Model systems, lipid rafts, and cell membranes. Annu. Rev. Biophys. Biomol. Struct. 33: 269-295.