Amelioration of muscular dystrophy by transgenic expression of niemann-pick C1

Molecular Biology of the Cell

Volumn 20, Issue 1, 2009, Pages 146-152

  Steen, Michelle S ^a   Adams, Marvin E ^a   Tesch, Yan ^a   Froehner, Stanley C ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROBREVIN; DYSTROBREVIN A; NIEMANN PICK C1; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; DYSTROPHIN; DYSTROPHIN ASSOCIATED PROTEIN; NPC1 PROTEIN, MOUSE; PROTEIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; GENE EXPRESSION; GENE MUTATION; MOUSE; MUSCULAR DYSTROPHY; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SKELETAL MUSCLE; X CHROMOSOME LINKED MUSCULAR DYSTROPHIC MOUSE; ANIMAL; CYTOLOGY; DISEASE MODEL; DNA MICROARRAY; DUCHENNE MUSCULAR DYSTROPHY; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENETICS; HUMAN; LYSOSOME; MALE; METABOLISM; PATHOLOGY; PHENOTYPE; PHYSIOLOGY; TRANSGENE; TRANSGENIC MOUSE;

ANIMALS; DISEASE MODELS, ANIMAL; DYSTROPHIN; DYSTROPHIN-ASSOCIATED PROTEINS; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; HUMANS; LYSOSOMES; MALE; MICE; MICE, INBRED MDX; MICE, TRANSGENIC; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, DUCHENNE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; PROTEINS; TRANSGENES;

EID: 63049089109     PISSN: 10591524     EISSN: None     Source Type: Journal    
DOI: 10.1091/mbc.E08-08-0811     Document Type: Article

References (45)

1. Adams, M. E., Kramarcy, N., Krall, S. P., Rossi, S. G., Rotundo, R. L., Sealock, R., and Froehner, S. C. (2000). Absence of alpha-syntrophin leads to structurally aberrant neuromuscular synapses deficient in utrophin. J. Cell Biol. 150, 1385-1398.
2. Bakay, M., Zhao, P., Chen, J., and Hoffman, E. P. (2002). A web-accessible complete transcriptome of normal human and DMD muscle. Neuromuscul. Disord. 12 (suppl 1), S125-S141.
3. Brenman, J. E., Chao, D. S., Xia, H., Aldape, K., and Bredt, D. S. (1995). Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy. Cell 82, 743-752.
4. Brennan, K. J., and Hardeman, E. C. (1993). Quantitative analysis of the human alpha-skeletal actin gene in transgenic mice. J. Biol. Chem. 268, 719-725.
5. Briguet, A., Courdier-Fruh, I., Foster, M., Meier, T., and Magyar, J. P. (2004). Histological parameters for the quantitative assessment of muscular dystrophy in the mdx-mouse. Neuromuscul. Disord. 14, 675-682.
6. Bulfield, G., Siller, W. G., Wight, P. A., and Moore, K. J. (1984). X chromosome-linked muscular dystrophy (mdx) in the mouse. Proc. Natl. Acad Sci. USA 81, 1189-1192.
7. Carozzi, A. J., Ikonen, E., Lindsay, M. R., and Parton, R. G. (2000). Role of cholesterol in developing T-tubules:analogous mechanisms for T-tubule and caveolae biogenesis. Traffic 1, 326-341.
8. Chao, D. S., Silvagno, F., and Bredt, D. S. (1998). Muscular dystrophy in mdx mice despite lack of neuronal nitric oxide synthase. J. Neurochem. 71, 784-789.
9. Cox, G. A., Cole, N. M., Matsumura, K., Phelps, S. F., Hauschka, S. D., Campbell, K. P., Faulkner, J. A., and Chamberlain, J. S. (1993). Overexpression of dystrophin in transgenic mdx mice eliminates dystrophic symptoms without toxicity. Nature 364, 725-729.
10. Crawford, G. E., Faulkner, J. A., Crosbie, R. H., Campbell, K. P., Froehner, S. C., and Chamberlain, J. S. (2000). Assembly of the dystrophin-associated protein complex does not require the dystrophin COOH-terminal domain. J. Cell Biol. 150, 1399-1410.
11. Engvall, E., and Wewer, U. M. (2003). The new frontier in muscular dystrophy research: booster genes. FASEB J. 17, 1579-2584.
12. Ervasti, J. M. (2007). Dystrophin, its interactions with other proteins, and implications for muscular dystrophy. Biochim. Biophys Acta 1772, 108-117.
13. Ervasti, J. M., Ohlendieck, K., Kahl, S. D., Gaver, M. G., and Campbell, K. P. (1990). Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle. Nature 345, 315-319.
14. Galbiati, F. et al. (2000). Transgenic overexpression of caveolin-3 in skeletal muscle fibers induces a Duchenne-like muscular dystrophy phenotype. Proc. Natl. Acad Sci. USA 97, 9689-9694.
15. Garcia-Cardena, G., Martasek, P., Masters, B. S., Skidd, P. M., Couet, J., Li, S., Lisanti, M. P., and Sessa, W. C. (1997). Dissecting the interaction between nitric oxide synthase (NOS) and caveolin. Functional significance of the nos caveolin binding domain in vivo. J. Biol. Chem. 272, 25437-25440.
16. Garver, W. S., Heidenreich, R. A., Erickson, R. P., Thomas, M. A., and Wilson, J. M. (2000). Localization of the murine Niemann-Pick C1 protein to two distinct intracellular compartments. J. Lipid Res. 41, 673-687.
17. Garver, W. S., Hossain, G. S., Winscott, M. M., and Heidenreich, R. A. (1999). The Npc1 mutation causes an altered expression of caveolin-1, annexin II and protein kinases and phosphorylation of caveolin-1 and annexin II in murine livers. Biochim. Biophys. Acta 1453, 193-206.
18. Garver, W. S., Krishnan, K., Gallagos, J. R., Michikawa, M., Francis, G. A., and Heidenreich, R. A. (2002). Niemann-Pick C1 protein regulates cholesterol transport to the trans-Golgi network and plasma membrane caveolae. J. Lipid Res. 43, 579-589.
19. Grady, R. M., Grange, R. W., Lau, K. S., Maimone, M. M., Nichol, M. C., Stull, J. T., and Sanes, J. R. (1999). Role for alpha-dystrobrevin in the pathogenesis of dystrophin-dependent muscular dystrophies. Nat. Cell Biol. 1, 215-220.
20. Gregorevic, P. et al. (2006). rAAV6-microdystrophin preserves muscle function and extends lifespan in severely dystrophic mice. Nat. Med. 12, 787-789.
21. Haslett, J. N., Sanoudou, D., Kho, A. T., Bennett, R. R., Greenberg, S. A., Kohane, I. S., Beggs, A. H., and Kunkel, L. M. (2002). Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle. Proc. Natl. Acad Sci. USA 99, 15000-15005.
22. Hernandez-Deviez, D. J., Howes, M. T., Laval, S. H., Bushby, K., Hancock, J. F., and Parton, R. G. (2008). Caveolin regulates endocytosis of the muscle repair protein, dysferlin. J. Biol. Chem. 283, 6476-6488.
23. 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.
24. Hoffman, E. P., Brown, R. H., and Kunkel, L. M. (1987). Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51, 919-928.
25. Kameya, S., Miyagoe, Y., Nonaka, I., Ikemoto, T., Endo, M., Hanaoka, K., Nabeshima, Y., and Takeda, S. (1999). alpha-Syntrophin gene disruption results in the absence of neuronal-type nitric oxide synthase at the sarco-lemma but does not induce muscle degeneration. J. Biol. Chem. 274, 2193-2200.
26. Liscum, L., Ruggiero, R. M., and Faust, J. R. (1989). The intracellular transport of low density lipoprotein-derived cholesterol is defective in Niemann-Pick type C fibroblasts. J. Cell Biol. 108, 1625-1636.
27. Minetti, C. et al. (1998). Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat. Genet. 18, 365-368.
28. Neufeld, E. B. 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.
29. Ozawa, E., Mizuno, Y., Hagiwara, Y., Sasaoka, T., and Yoshida, M. (2005). Molecular and cell biology of the sarcoglycan complex. Muscle Nerve 32, 563-576.
30. Percival, J. M., Gregorevic, P., Odom, G. L., Banks, G. B., Chamberlain, J. S., and Froehner, S. C. (2007). rAAV6-microdystrophin rescues aberrant Golgi complex organization in mdx skeletal muscles. Traffic 8, 1424-1439.
31. Porter, J. D. et al. (2002). A chronic inflammatory response dominates the skeletal muscle molecular signature in dystrophin-deficient mdx mice. Hum. Mol. Genet 11, 263-272.
32. Porter, J. D., Merriam, A. P., Leahy, P., Gong, B., Feuerman, J., Cheng, G., and Khanna, S. (2004). Temporal gene expression profiling of dystrophin-deficient (mdx) mouse diaphragm identifies conserved and muscle group-specific mechanisms in the pathogenesis of muscular dystrophy. Hum. Mol. Genet. 13, 257-269.
33. Ragot, T. et al. (1993). Efficient adenovirus-mediated transfer of a human minidystrophin gene to skeletal muscle of mdx mice. Nature 361, 647-650.
34. Rando, T. A. (2001). Role of nitric oxide in the pathogenesis of muscular dystrophies: a "two hit" hypothesis of the cause of muscle necrosis. Microsc. Res. Tech. 55, 223-235.
35. Repetto, S. et al. (1999). Increased number of caveolae and caveolin-3 overex-pression in Duchenne muscular dystrophy. Biochem. Biophys. Res. Commun. 261, 547-550.
36. Sokol, J. et al. (1988). Type C Niemann-Pick disease. Lysosomal accumulation and defective intracellular mobilization of low density lipoprotein cholesterol. J. Biol. Chem. 263, 3411-3417.
37. Song, K. S., Scherer, P. E., Tang, Z., Okamoto, T., Li, S., Chafel, M., Chu, C., Kohtz, D. S., and Lisanti, M. P. (1996). Expression of caveolin-3 in skeletal, cardiac, and smooth muscle cells. Caveolin-3 is a component of the sarco-lemma and co-fractionates with dystrophin and dystrophin-associated glyco-proteins. J. Biol. Chem. 271, 15160-15165.
38. Sotgia, F. et al. (2000). Caveolin-3 directly interacts with the C-terminal tail of β-dystroglycan. Identification of a central WW-like domain within caveolin family members. J. Biol. Chem. 275, 38048-38058.
39. Tseng, B. S., Zhao, P., Pattison, J. S., Gordon, S. E., Granchelli, J. A., Madsen, R. W., Folk, L. C., Hoffman, E. P., and Booth, F. W. (2002). Regenerated mdx mouse skeletal muscle shows differential mRNA expression. J. Appl. Physiol. 93, 537-545.
40. Vaghy, P. L., Fang, J., Wu, W., and Vaghy, L. P. (1998). Increased caveolin-3 levels in mdx mouse muscles. FEBS Lett. 431, 125-127.
41. Venema, V. J., Ju, H., Zou, R., and Venema, R. C. (1997). Interaction of neuronal nitric-oxide synthase with caveolin-3 in skeletal muscle. Identification of a novel caveolin scaffolding/inhibitory domain. J. Biol. Chem. 272, 28187-28190.
42. Wang, B., Li, J., and Xiao, X. (2000). Adeno-associated virus vector carrying human minidystrophin genes effectively ameliorates muscular dystrophy in mdx mouse model. Proc. Natl. Acad. Sci. USA 97, 13714-13719.
43. Wehling, M., Spencer, M. J., and Tidball, J. G. (2001). A nitric oxide synthase transgene ameliorates muscular dystrophy in mdx mice. J. Cell Biol. 155, 123-131.
44. Wenzel, K. et al. (2005). Increased susceptibility to complement attack due to down-regulation of decay-accelerating factor/CD55 in dysferlin-deficient muscular dystrophy. J. Immunol. 175, 6219-6225.
45. Xie, C., Turley, S. D., Pentchev, P. G., and Dietschy, J. M. (1999). Cholesterol balance and metabolism in mice with loss of function of Niemann-Pick C protein. Am J. Physiol. 276, E336-E344.