Skeletal muscle repair in a mouse model of nemaline myopathy

Human Molecular Genetics

Volumn 15, Issue 17, 2006, Pages 2603-2612

  Sanoudou, Despina ^a,b   Corbett, Mark A ^c   Han, Mei ^a   Ghoddusi, Majid ^c   Nguyen, Mai Anh T ^c   Vlahovich, Nicole ^c   Hardeman, Edna C ^c   Beggs, Alan H ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b BIOMEDICAL RESEARCH FOUNDATION   (Greece)

^c CHILDREN'S MEDICAL RESEARCH INSTITUTE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CADHERIN; DESMIN; METHIONINE; MYOD PROTEIN; MYOGENIC FACTOR 6; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PAX7; TROPOMYOSIN; TROPOMYOSIN 3; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL COUNT; CONTROLLED STUDY; DIAPHRAGM MUSCLE; DISEASE SEVERITY; ELECTRON MICROSCOPY; GENE EXPRESSION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; IMMUNOHISTOCHEMISTRY; MICROARRAY ANALYSIS; MOUSE; MUSCLE CELL; MUSCLE FIBRIL; MUTATIONAL ANALYSIS; NEMALINE MYOPATHY; NEUROMUSCULAR DISEASE; NONHUMAN; PATHOGENESIS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SATELLITE CELL; SKELETAL MUSCLE; TISSUE REPAIR; WESTERN BLOTTING;

ANIMALS; DISEASE PROGRESSION; GENE EXPRESSION PROFILING; MICE; MICE, TRANSGENIC; MICROSCOPY, ELECTRON; MUSCLE, SKELETAL; MYOFIBRILS; MYOPATHIES, NEMALINE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION;

EID: 33747881610     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddl186     Document Type: Article

References (39)

1. Chen, Y.W., Zhao, P., Borup, R. and Hoffman, E.P. (2000) Expression profiling in the muscular dystrophies: Identification of novel aspects of molecular pathophysiology. J. Cell Biol., 151, 1321-1336.
2. Greenberg, S.A., Sanoudou, D., Haslett, J.N., Kohane, I.S., Kunkel, L.M., Beggs, A.H. and Amato, A.A. (2002) Molecular profiles of inflammatory myopathies. Neurology, 59, 1170-1182.
3. 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.
4. Porter, J.D., Khanna, S., Kaminski, H.J., Rao, J.S., Merriam, A.P., Richmonds, C.R., Leahy, P., Li, J., Guo, W. and Andrade, F.H. (2002) A chronic inflammatory response dominates the skeletal muscle molecular signature in dystrophin-deficient mdx mice. Hum. Mol. Genet., 11, 263-272.
5. Sanoudou, D., Haslett, J.N., Kho, A.T., Guo, S., Gazda, H.T., Greenberg, S.A., Lidov, H.G., Kohane, I.S., Kunkel, L.M. and Beggs, A.H. (2003) Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nermaline myopathy muscle. Proc. Natl Acad. Sci. USA, 100, 4666-4671.
6. Haslett, J.N., Kang, P.B., Han, M., Kho, A.T., Sanoudou, D., Volinski, J.M., Beggs, A.H., Kohane, I.S. and Kunkel, L.M. (2005) The influence of muscle type and dystrophin deficiency on murine expression profiles. Mamm. Genome, 16; 739-748.
7. North, K.N., Laing, N.G. and Wallgren-Pettersson, C. (1997) Nemaline myopathy: Current concepts. The ENMC International Consortium and Nemaline Myopathy. J. Med. Genet., 34, 705-713.
8. Sanoudou, D. and Beggs, A.H. (2001) Clinical and genetic heterogeneity in nemaline myopathy - a disease of skeletal muscle thin filaments. Trends Mol. Med., 7, 362-368.
9. Durling, H.J., Reilich, P., Muller-Hocker, J., Mendel, B., Pongratz, D., Wallgren-Pettersson, C., Gunning, P., Lochmuller, H. and Laing, N.G. (2002) De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy. Neuromuscul. Disord., 12, 947-951.
10. Laing, N.G., Wilton, S.D., Akkari, P.A., Dorosz, S., Boundy, K., Kneebone, C., Blumbergs, P., White, S., Watkins, H., Love, D.R. et al. (1995) A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Nat. Genet., 9, 75-79.
11. Wattanasirichaigoon, D., Swoboda, K.J., Takada, F., Tong, H.Q., Lip, V., Iannaccone, S.T., Wallgren-Pettersson, C., Laing, N.G. and Beggs, A.H. (2002) Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy. Neurology, 59, 613-617.
12. Corbett, M.A., Robinson, C.S., Dunglison, G.F., Yang, N., Joya, J.E., Stewart, A.W., Schnell, C., Gunning, P.W., North, K.N. and Hardeman, E.C. (2001) A mutation in alpha-tropomyosin (slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy. Hum. Mol. Genet., 10, 317-328.
13. Tinsley, J.M., Potter, A.C., Phelps, S.R., Fisher, R., Trickett, J.I. and Davies, K.E. (1996) Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin transgene. Nature, 384, 349-353.
14. Cheng, G., Merriam, A.P., Gong, B., Leahy, P., Khanna, S. and Porter, J.D. (2004) Conserved and muscle-group-specific gene expression patterns shape postnatal development of the novel extraocular muscle phenotype. Physiol. Genomics, 18, 184-195.
15. Kang, P.B., Kho, A.T., Sanoudou, D., Haslett, J.N., Dow, C.P., Han, M., Blasko, J.M., Lidov, H.G., Beggs, A.H. and Kunkel, L.M. (2005) Variations in gene expression among different types of human skeletal muscle. Muscle Nerve, 32, 483-491.
16. 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.
17. Spitz, F., Demignon, J., Porteu, A., Kahn, A., Concordet, J.P., Daegelen, D. and Maire, P. (1998) Expression of myogenin during embryogenesis is controlled by Six/sine oculis homeoproteins through a conserved MEF3 binding site. Proc. Natl Acad. Sci. USA, 95, 14220-14225.
18. Sartorelli, V., Puri, P.L., Hamamori, Y., Ogryzko, V., Chung, G., Nakatani, Y., Wang, J.Y. and Kedes, L. (1999) Acetylation of MyoD directed by PCAF is necessary for the execution of the muscle program. Mol. Cell, 4, 725-734.
19. Arber, S., Halder, G. and Caroni, P. (1994) Muscle LIM protein, a novel essential regulator of myogenesis, promotes myogenic differentiation. Cell, 79, 221-231.
20. Braun, T., Bober, E., Winter, B., Rosenthal, N. and Arnold, H.H. (1990) Myf-6, a new member of the human gene family of myogenic determination factors: Evidence for a gene cluster on chromosome 12. EMBO J., 9, 821-831.
21. Joya, J.E., Kee, A.J., Nair-Shalliker, V., Ghoddusi, M., Nguyen, M.A., Luther, P. and Hardeman, E.C. (2004) Muscle weakness in a mouse model of nemaline myopathy can be reversed with exercise and reveals a novel myofiber repair mechanism. Hum. Mol. Genet., 13, 2633-2645.
22. Kojic, S., Medeot, E., Guccione, E., Krmac, H., Zara, I., Martinelli, V., Valle, G. and Faulkner, G. (2004) The Ankrd2 protein, a link between the sarcomere and the nucleus in skeletal muscle. J. Mol. Biol., 339, 313-325.
23. Knoll, R., Hoshijima, M., Hoffman, H.M., Person, V., Lorenzen-Schmidt, I., Bang, M.L., Hayashi, T., Shiga, N., Yasukawa, H., Schaper, W. et al. (2002) The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell, 111, 943-955.
24. Halevy, O., Novitch, B.G., Spicer, D.B., Skapek, S.X., Rhee, J., Hannon, G.J., Beach, D. and Lassar, A.B. (1995) Correlation of terminal cell cycle arrest of skeletal muscle with induction of p21 by MyoD. Science, 267, 1018-1021.
25. Weiskirchen, R. and Gunther, K. (2003) The CRP/MLP/TLP family of LIM domain proteins: Acting by connecting. Bioessays, 25, 152-162.
26. Kong, Y., Flick, M.J., Kudla, A.J. and Konieczny, S.F. (1997) Muscle LIM protein promotes myogenesis by enhancing the activity of MyoD. Mol. Cell Biol., 17, 4750-4760.
27. Ecarnot-Laubriet, A., De Luca, K., Vandroux, D., Moisant, M., Bernard, C., Assem, M., Rochette, L. and Teyssier, J.R. (2000) Downregulation and nuclear relocation of MLP during the progression of right ventricular hypertrophy induced by chronic pressure overload. J. Mol. Cell. Cardiol., 32, 2385-2395.
28. Nakada, C., Tsukamoto, Y., Oka, A., Nonaka, I., Sato, K., Mori, S., Ito, H. and Moriyama, M. (2004) Altered expression of ARPP protein in skeletal muscles of patients with muscular dystrophy, congenital myopathy and spinal muscular atrophy. Pathobiology, 71, 43-51.
29. Pallavicini, A., Kojic, S., Bean, C., Vainzof, M., Salamon, M., Ievolella, C., Bortoletto, G., Pacchioni, B., Zatz, M., Lanfranchi, G. et al. (2001) Characterization of human skeletal muscle Ankrd2. Biochem. Biophys. Res. Commun., 285, 378-386.
30. von der Hagen, M., Laval, S.H., Cree, L.M., Haldane, F., Pocock, M., Wappler, I., Peters, H., Reitsamer, H.A., Hoger, H., Wiedner, M. et al. (2005) The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice. Neuromuscul. Disord., 15, 863-877.
31. Winokur, S.T., Chen, Y.W., Masny, P.S., Martin, J.H., Ehmsen, J.T., Tapscott, S.J., van der Maarel, S.M., Hayashi, Y. and Flanigan, K.M. (2003) Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation. Hum. Mol. Genet., 12, 2895-2907.
32. Witt, C.C., Ono, Y., Puschmann, E., McNabb, M., Wu, Y., Gotthardt, M., Witt, S.H., Haak, M., Labeit, D., Gregorio, C.C. et al. (2004) Induction and myofibrillar targeting of CARP, and suppression of the Nkx2.5 pathway in the MDM mouse with impaired titin-based signaling. J. Mol. Biol., 336, 145-154.
33. Lanier, L.M., Gates, M.A., Witke, W., Menzies, A.S., Wehman, A.M., Macklis, J.D., Kwiatkowski, D., Soriano, P. and Gertler, F.B. (1999) Mena is required for neurulation and commissure formation. Neuron, 22, 313-325.
34. Yin, Z., Haynie, J., Yang, X., Han, B., Kiatchoosakun, S., Restivo, J., Yuan, S., Prabhakar, N.R., Herrup, K., Conlon, R.A. et al. (2002) The essential role of Cited2, a negative regulator for HIF-1alpha, in heart development and neurulation. Proc. Natl Acad Sci. USA, 99, 10488-10493.
35. Sanoudou, D., Frieden, L.A., Haslett, J.N., Kho, A.T., Greenberg, S.A., Kohane, I.S., Kunkel, L.M. and Beggs, A.H. (2004) Molecular classification of nemaline myopathies: 'nontyping' specimens exhibit unique patterns of gene expression. Neurobiol. Dis., 15, 590-600.
36. Rouger, K., Le Cunff, M., Steenman, M., Potier, M.C., Gibelin, N., Dechesne, C.A. and Leger, J.J. (2002) Global/temporal gene expression in diaphragm and hindlimb muscles of dystrophin-deficient (mdx) mice. Am. J. Physiol. Cell Physiol., 283, C773-C784.
37. Corbett, M.A., Akkari, P.A., Domazetovska, A., Cooper, S.T., North, K.N., Laing, N.G., Gunning, P.W. and Hardeman, E.C. (2005) An alpha Tropomyosin mutation alters dimer preference in nemaline myopathy. Ann. Neurol., 57, 42-49.
38. Zardini, D.M. and Parry, D.J. (1994) Identification, distribution, and myosin subunit composition of type IIX fibers in mouse muscles. Muscle Nerve, 17, 1308-1316.
39. Tusher, V.G., Tibshirani, R. and Chu, G. (2001) Significance analysis of microarrays applied to the ionizing radiation response. Proc. Natl Acad. Sci. USA, 98, 5116-5121.