Transgenic inactivation of murine myostatin does not decrease the severity of disease in a model of Spinal Muscular Atrophy

Neuromuscular Disorders

Volumn 22, Issue 3, 2012, Pages 277-285

  Rindt, Hansjörg ^a   Buckley, Desire M ^a   Vale, Spencer M ^a   Krogman, Megan ^a   Rose, Ferrill F ^a   Garcia, Michael L ^a   Lorson, Christian L ^a  

^a UNIVERSITY OF MISSOURI   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MYOSTATIN; SURVIVAL MOTOR NEURON PROTEIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; GENE; GENE INACTIVATION; MOUSE; MSTN GENE; MUSCLE DEVELOPMENT; NEWBORN; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY; TRANSGENICS;

AGE FACTORS; ANIMALS; ANIMALS, NEWBORN; BODY WEIGHT; BRAIN; DISEASE MODELS, ANIMAL; FOLLISTATIN; GENE EXPRESSION REGULATION; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MOTOR ACTIVITY; MOTOR NEURONS; MUSCLE, SKELETAL; MUSCULAR ATROPHY, SPINAL; MYOSTATIN; ORGAN SIZE; SPINAL CORD; SURVIVAL OF MOTOR NEURON 1 PROTEIN;

EID: 84858081392     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2011.10.012     Document Type: Article

References (46)

1. Lefebvre S., Burglen L., Reboullet S., et al. Identification and characterization of a Spinal Muscular Atrophy-determining gene. Cell 1995, 80:155-165.
2. Gavrilina T.O., McGovern V.L., Workman E., et al. Neuronal SMN expression corrects Spinal Muscular Atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect. Hum Mol Genet 2008, 17:1063-1075.
3. Rose F.F., Mattis V.B., Rindt H., Lorson C.L. Delivery of recombinant follistatin lessens disease severity in a mouse model of Spinal Muscular Atrophy. Hum Mol Genet 2009, 18:997-1005.
4. Dobrowolny G., Giacinti C., Pelosi L., et al. Muscle expression of a local IGF-1 isoform protects motor neurons in an ALS mouse model. J Cell Biol 2005, 168:193-199.
5. McPherron A.C., Lawler A.M., Lee S.J. Regulation of skeletal muscle mass in mice by a new TGF-beta superfamily member. Nature 1997, 387:83-90.
6. McPherron A.C., Lee S.J. Double muscling in cattle due to mutations in the myostatin gene. Proc Natl Acad Sci USA 1997, 94:12457-12461.
7. Schuelke M., Wagner K.R., Stolz L.E., et al. Myostatin mutation associated with gross muscle hypertrophy in a child. N Engl J Med 2004, 350:2682-2688.
8. Mosher D.S., Quignon P., Bustamante C.D., et al. A mutation in the myostatin gene increases muscle mass and enhances racing performance in heterozygote dogs. PLoS Genet 2007, 3:e79.
9. Tsuchida K. Targeting myostatin for therapies against muscle-wasting disorders. Curr Opin Drug Discov Devel 2008, 11:487-494.
10. Hayette S., Gadoux M., Martel S., et al. FLRG (follistatin-related gene), a new target of chromosomal rearrangement in malignant blood disorders. Oncogene 1998, 16:2949-2954.
11. Tsuchida K., Arai K.Y., Kuramoto Y., Yamakawa N., Hasegawa Y., Sugino H. Identification and characterization of a novel follistatin-like protein as a binding protein for the TGF-beta family. J Biol Chem 2000, 275:40788-40796.
12. Hill J.J., Qiu Y., Hewick R.M., Wolfman N.M. Regulation of myostatin in vivo by growth and differentiation factor-associated serum protein-1: a novel protein with protease inhibitor and follistatin domains. Mol Endocrinol 2003, 17:1144-1154.
13. Wagner K.R., McPherron A.C., Winik N., Lee S.J. Loss of myostatin attenuates severity of muscular dystrophy in mdx mice. Ann Neurol 2002, 52:832-836.
14. Holzbaur E.L., Howland D.S., Weber N., et al. Myostatin inhibition slows muscle atrophy in rodent models of amyotrophic lateral sclerosis. Neurobiol Dis 2006, 23:697-707.
15. Sumner C.J., Wee C.D., Warsing L.C., et al. Inhibition of myostatin does not ameliorate disease features of severe Spinal Muscular Atrophy mice. Hum Mol Genet 2009, 18:3145-3152.
16. Le T.T., Pham L.T., Butchbach M.E., et al. SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with Spinal Muscular Atrophy and associates with full-length SMN. Hum Mol Genet 2005, 14:845-857.
17. Schrank B., Gotz R., Gunnersen J.M., et al. Inactivation of the survival motor neuron gene, a candidate gene for human Spinal Muscular Atrophy, leads to massive cell death in early mouse embryos. Proc Natl Acad Sci USA 1997, 94:9920-9925.
18. Truett G.E., Heeger P., Mynatt R.L., Truett A.A., Walker J.A., Warman M.L. Preparation of PCR-quality mouse genomic DNA with hot sodium hydroxide and tris (HotSHOT). Biotechniques 2000, 29:52,54.
19. Lee S.J., Lee Y.S., Zimmers T.A., et al. Regulation of muscle mass by follistatin and activins. Mol Endocrinol 2010, 24:1998-2008.
20. Kariya S., Park G.H., Maeno-Hikichi Y., et al. Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of Spinal Muscular Atrophy. Hum Mol Genet 2008, 17:2552-2569.
21. Williams N.G., Interlichia J.P., Jackson M.F., Hwang D., Cohen P., Rodgers B.D. Endocrine actions of myostatin: systemic regulation of the IGF and IGF binding protein axis. Endocrinology 2011, 152:172-180.
22. Avila A.M., Burnett B.G., Taye A.A., et al. Trichostatin A increases SMN expression and survival in a mouse model of Spinal Muscular Atrophy. J Clin Invest 2007, 117:659-671.
23. Butchbach M.E., Edwards J.D., Burghes A.H. Abnormal motor phenotype in the SMNDelta7 mouse model of Spinal Muscular Atrophy. Neurobiol Dis 2007, 27:207-219.
24. El-Khodor B.F., Edgar N., Chen A., et al. Identification of a battery of tests for drug candidate evaluation in the SMNDelta7 neonate model of Spinal Muscular Atrophy. Exp Neurol 2008, 212:29-43.
25. Chari A., Paknia E., Fischer U. The role of RNP biogenesis in Spinal Muscular Atrophy. Curr Opin Cell Biol 2009, 21:387-393.
26. Burghes A.H., Beattie C.E. Spinal Muscular Atrophy: why do low levels of survival motor neuron protein make motor neurons sick?. Nat Rev Neurosci 2009, 10:597-609.
27. Shababi M., Habibi J., Yang H.T., Vale S.M., Sewell W.A., Lorson C.L. Cardiac defects contribute to the pathology of Spinal Muscular Atrophy models. Hum Mol Genet 2010, 19:4059-4071.
28. Bevan AK, Hutchinson KR, Foust KD, et al. Early heart failure in the SMNDelta7 model of Spinal Muscular Atrophy and correction by postnatal scAAV9-SMN delivery. Hum Mol Genet 2010; 19:3895-905.
29. Heier C.R., Satta R., Lutz C., DiDonato C.J. Arrhythmia and cardiac defects are a feature of Spinal Muscular Atrophy model mice. Hum Mol Genet 2010, 19:3906-3918.
30. Wishart TM, Huang JP, Murray LM, et al. SMN deficiency disrupts brain development in a mouse model of severe Spinal Muscular Atrophy. Hum Mol Genet 2010;19:4216-28.
31. Lunn M.R., Wang C.H. Spinal Muscular Atrophy. Lancet 2008, 371:2120-2133.
32. Bowerman M., Beauvais A., Anderson C.L., Kothary R. Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model. Hum Mol Genet 2010, 19:1468-1478.
33. Akten B., Kye M.J., Hao le T., et al. Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficits. Proc Natl Acad Sci USA 2011, 108:10337-10342.
34. Butchbach M.E., Rose F.F., Rhoades S., et al. Effect of diet on the survival and phenotype of a mouse model for Spinal Muscular Atrophy. Biochem Biophys Res Commun 2010, 391:835-840.
35. Grondard C., Biondi O., Armand A.S., et al. Regular exercise prolongs survival in a type 2 Spinal Muscular Atrophy model mouse. J Neurosci 2005, 25:7615-7622.
36. Kollias H.D., McDermott J.C. Transforming growth factor-beta and myostatin signaling in skeletal muscle. J Appl Physiol 2008, 104:579-587.
37. Bosch-Marce M., Wee C.D., Martinez T.L., et al. Increased IGF-1 in muscle modulates the phenotype of severe SMA mice. Hum Mol Genet 2011, 20:1844-1853.
38. Lee S.J., Reed L.A., Davies M.V., et al. Regulation of muscle growth by multiple ligands signaling through activin type II receptors. Proc Natl Acad Sci USA 2005, 102:18117-18122.
39. Rebbapragada A., Benchabane H., Wrana J.L., Celeste A.J., Attisano L. Myostatin signals through a transforming growth factor beta-like signaling pathway to block adipogenesis. Mol Cell Biol 2003, 23:7230-7242.
40. Lee S.J. Quadrupling muscle mass in mice by targeting TGF-beta signaling pathways. PLoS ONE 2007, 2:e789.
41. Nakatani M., Takehara Y., Sugino H., et al. Transgenic expression of a myostatin inhibitor derived from follistatin increases skeletal muscle mass and ameliorates dystrophic pathology in mdx mice. FASEB J 2007.
42. Qiao C., Li J., Jiang J., Zhu X., Wang B., Xiao X. Myostatin propeptide gene delivery by adeno-associated virus serotype 8 vectors enhances muscle growth and ameliorates dystrophic phenotypes in mdx mice. Hum Gene Ther 2008, 19:241-254.
43. Li Z.F., Shelton G.D., Engvall E. Elimination of myostatin does not combat muscular dystrophy in dy mice but increases postnatal lethality. Am J Pathol 2005, 166:491-497.
44. Parsons S.A., Millay D.P., Sargent M.A., McNally E.M., Molkentin J.D. Age-dependent effect of myostatin blockade on disease severity in a murine model of limb-girdle muscular dystrophy. Am J Pathol 2006, 168:1975-1985.
45. Bogdanovich S., McNally E.M., Khurana T.S. Myostatin blockade improves function but not histopathology in a murine model of limb-girdle muscular dystrophy 2C. Muscle Nerve 2008, 37:308-316.
46. Matsakas A., Otto A., Elashry M.I., Brown S.C., Patel K. Altered primary and secondary myogenesis in the myostatin-null mouse. Rejuvenation Res 2010, 13:717-727.