animal muscular dystrophy

Summary

Summary: MUSCULAR DYSTROPHY that occurs in VERTEBRATE animals.

Top Publications

  1. Morrison J, Palmer D, Cobbold S, Partridge T, Bou Gharios G. Effects of T-lymphocyte depletion on muscle fibrosis in the mdx mouse. Am J Pathol. 2005;166:1701-10 pubmed
  2. Bentzinger C, Barzaghi P, Lin S, Ruegg M. Overexpression of mini-agrin in skeletal muscle increases muscle integrity and regenerative capacity in laminin-alpha2-deficient mice. FASEB J. 2005;19:934-42 pubmed
    ..Our findings thus suggest that treatment with mini-agrin might be beneficial over the entire spectrum of the MDC1A disease, whose severity inversely correlates with expression levels and the size of the truncation in laminin-alpha2...
  3. Salimena M, Lagrota Candido J, Quirico Santos T. Gender dimorphism influences extracellular matrix expression and regeneration of muscular tissue in mdx dystrophic mice. Histochem Cell Biol. 2004;122:435-44 pubmed
    ..These results suggest a role for female hormones in the control of myonecrosis probably by promoting regeneration of muscular tissue and mitigating inflammation especially at ages under the critical influence of sex hormones...
  4. Hanft L, Bogan D, Mayer U, Kaufman S, Kornegay J, Ervasti J. Cytoplasmic gamma-actin expression in diverse animal models of muscular dystrophy. Neuromuscul Disord. 2007;17:569-74 pubmed
    ..These data suggest that elevated gamma(cyto)-actin is part of a compensatory cytoskeletal remodeling program that may partially stabilize dystrophic muscle in some cases where the dystrophin-glycoprotein complex is compromised...
  5. Van Erp C, Irwin N, Hoey A. Long-term administration of pirfenidone improves cardiac function in mdx mice. Muscle Nerve. 2006;34:327-34 pubmed
    ..These results show that the TGF-beta antagonist, pirfenidone, can improve cardiac function in mdx mice, potentially providing a new avenue for developing cardiac therapies for patients with Duchenne muscular dystrophy...
  6. Haenggi T, Fritschy J. Role of dystrophin and utrophin for assembly and function of the dystrophin glycoprotein complex in non-muscle tissue. Cell Mol Life Sci. 2006;63:1614-31 pubmed
    ..Here, we focus on recent studies of the DGC in brain, blood-brain barrier and choroid plexus, retina, and kidney and discuss the role of dystrophin isoforms and utrophin for assembly of the complex in these tissues...
  7. Yurchenco P, Cheng Y, Campbell K, Li S. Loss of basement membrane, receptor and cytoskeletal lattices in a laminin-deficient muscular dystrophy. J Cell Sci. 2004;117:735-42 pubmed
  8. Shimatsu Y, Yoshimura M, Yuasa K, Urasawa N, Tomohiro M, Nakura M, et al. Major clinical and histopathological characteristics of canine X-linked muscular dystrophy in Japan, CXMDJ. Acta Myol. 2005;24:145-54 pubmed
    ..Overall, the phenotypes of CXMDJ were roughly identical to those of CXMD dogs in the literature. Beagle-based CXMDJ is smaller and easier to handle than golden retriever, therefore they are a useful model for DMD...
  9. Grady R, Akaaboune M, Cohen A, Maimone M, Lichtman J, Sanes J. Tyrosine-phosphorylated and nonphosphorylated isoforms of alpha-dystrobrevin: roles in skeletal muscle and its neuromuscular and myotendinous junctions. J Cell Biol. 2003;160:741-52 pubmed
    ..More generally, alphaDB may play multiple roles in muscle by means of differential distribution of isoforms with distinct signaling or structural properties...

More Information

Publications62

  1. Barton E, Morris L, Kawana M, Bish L, Toursel T. Systemic administration of L-arginine benefits mdx skeletal muscle function. Muscle Nerve. 2005;32:751-60 pubmed
    ..Together, these results show that L-arginine treatment can be beneficial to mdx muscle function, perhaps through a combination of enhanced calcium handling and increased utrophin, thereby decreasing muscle degeneration...
  2. Dell agnola C, Wang Z, Storb R, Tapscott S, Kuhr C, Hauschka S, et al. Hematopoietic stem cell transplantation does not restore dystrophin expression in Duchenne muscular dystrophy dogs. Blood. 2004;104:4311-8 pubmed
    ..1% donor contribution...
  3. Cerletti M, Negri T, Cozzi F, Colpo R, Andreetta F, Croci D, et al. Dystrophic phenotype of canine X-linked muscular dystrophy is mitigated by adenovirus-mediated utrophin gene transfer. Gene Ther. 2003;10:750-7 pubmed
    ..For this reason, utrophin transfer to dystrophin-deficient muscle appears as a promising therapeutic approach to DMD...
  4. Yue Y, Liu M, Duan D. C-terminal-truncated microdystrophin recruits dystrobrevin and syntrophin to the dystrophin-associated glycoprotein complex and reduces muscular dystrophy in symptomatic utrophin/dystrophin double-knockout mice. Mol Ther. 2006;14:79-87 pubmed
    ..It also brought the response to eccentric contraction-induced injury to the normal range. In summary, our results suggest that the DeltaR4/DeltaC microgene holds great promise in preventing muscular dystrophy...
  5. Lowe D, Williams B, Thomas D, Grange R. Molecular and cellular contractile dysfunction of dystrophic muscle from young mice. Muscle Nerve. 2006;34:92-100 pubmed
    ..Elucidating the molecular mechanisms underlying muscle weakness at the onset of disease is important for designing treatment strategies...
  6. Gregorevic P, Plant D, Leeding K, Bach L, Lynch G. Improved contractile function of the mdx dystrophic mouse diaphragm muscle after insulin-like growth factor-I administration. Am J Pathol. 2002;161:2263-72 pubmed
    ..As respiratory function is a mortality predictor in Duchenne muscular dystrophy patients, further evaluation of IGF-I intervention is recommended...
  7. Bogdanovich S, Krag T, Barton E, Morris L, Whittemore L, Ahima R, et al. Functional improvement of dystrophic muscle by myostatin blockade. Nature. 2002;420:418-21 pubmed
  8. Alter J, Lou F, Rabinowitz A, Yin H, Rosenfeld J, Wilton S, et al. Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology. Nat Med. 2006;12:175-7 pubmed
    ..Although the level of dystrophin expression achieved varies considerably between muscles, antisense therapy may provide a realistic hope for the treatment of a majority of individuals with DMD...
  9. Ito K, Kimura S, Ozasa S, Matsukura M, Ikezawa M, Yoshioka K, et al. Smooth muscle-specific dystrophin expression improves aberrant vasoregulation in mdx mice. Hum Mol Genet. 2006;15:2266-75 pubmed
    ..In addition, the elevated serum creatine kinase levels observed in mdx mice were significantly reduced in SMTg/mdx mice. This is the first report of a functional role of dystrophin in vascular smooth muscle...
  10. Buyse G, Van der Mieren G, Erb M, D hooge J, Herijgers P, Verbeken E, et al. Long-term blinded placebo-controlled study of SNT-MC17/idebenone in the dystrophin deficient mdx mouse: cardiac protection and improved exercise performance. Eur Heart J. 2009;30:116-24 pubmed publisher
    ..We have performed such a trial of SNT-MC17/idebenone in the mdx mouse model of DMD, based on the drug's potential to improve mitochondrial respiratory chain function and reduce oxidative stress...
  11. Rodino Klapac L, Janssen P, Montgomery C, Coley B, Chicoine L, Clark K, et al. A translational approach for limb vascular delivery of the micro-dystrophin gene without high volume or high pressure for treatment of Duchenne muscular dystrophy. J Transl Med. 2007;5:45 pubmed
  12. Villalta S, Nguyen H, Deng B, Gotoh T, Tidball J. Shifts in macrophage phenotypes and macrophage competition for arginine metabolism affect the severity of muscle pathology in muscular dystrophy. Hum Mol Genet. 2009;18:482-96 pubmed publisher
  13. Bogdanovich S, Perkins K, Krag T, Whittemore L, Khurana T. Myostatin propeptide-mediated amelioration of dystrophic pathophysiology. FASEB J. 2005;19:543-9 pubmed
  14. Rezniczek G, Konieczny P, Nikolic B, Reipert S, Schneller D, Abrahamsberg C, et al. Plectin 1f scaffolding at the sarcolemma of dystrophic (mdx) muscle fibers through multiple interactions with beta-dystroglycan. J Cell Biol. 2007;176:965-77 pubmed
    ..It also explains the plectin phenotype observed in dystrophic skeletal muscle of mdx mice and Duchenne muscular dystrophy patients...
  15. Bostick B, Yue Y, Long C, Marschalk N, Fine D, Chen J, et al. Cardiac expression of a mini-dystrophin that normalizes skeletal muscle force only partially restores heart function in aged Mdx mice. Mol Ther. 2009;17:253-61 pubmed publisher
    ..Our results demonstrate that the skeletal muscle-proven DeltaH2-R19 minigene can correct cardiac histopathology but cannot fully normalize heart function. Novel strategies must be developed to completely restore heart function in DMD...
  16. Yuasa K, Yoshimura M, Urasawa N, Ohshima S, Howell J, Nakamura A, et al. Injection of a recombinant AAV serotype 2 into canine skeletal muscles evokes strong immune responses against transgene products. Gene Ther. 2007;14:1249-60 pubmed
    ..Our results emphasize the importance to scrutinize the immune responses to AAV vectors in larger animal models before applying rAAV-mediated gene therapy to DMD patients...
  17. Schafer R, Zweyer M, Knauf U, Mundegar R, Wernig A. The ontogeny of soleus muscles in mdx and wild type mice. Neuromuscul Disord. 2005;15:57-64 pubmed
    ..Satellite cell numbers showed some considerable variation between individual animals, although with a markedly smaller variability between results of the same animal, pointing to the satellite cell pool being an individual variant...
  18. Benchaouir R, Meregalli M, Farini A, D Antona G, Belicchi M, Goyenvalle A, et al. Restoration of human dystrophin following transplantation of exon-skipping-engineered DMD patient stem cells into dystrophic mice. Cell Stem Cell. 2007;1:646-57 pubmed publisher
    ..These data demonstrate that autologous engrafting of blood or muscle-derived CD133+ cells, previously genetically modified to reexpress a functional dystrophin, represents a promising approach for DMD...
  19. Qiao C, Li J, Jiang J, Zhu X, Wang B, Li J, et al. 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;19:241-54 pubmed publisher
    ..These results clearly demonstrate the efficacy of AAV8-mediated myostatin propeptide gene delivery in a rodent model of DMD, and warrant further investigation in large animal models and eventually in human patients...
  20. De Bari C, Dell accio F, Vandenabeele F, Vermeesch J, Raymackers J, Luyten F. Skeletal muscle repair by adult human mesenchymal stem cells from synovial membrane. J Cell Biol. 2003;160:909-18 pubmed
    ..When administered into dystrophic muscles of immunosuppressed mdx mice, hSM-MSCs restored sarcolemmal expression of dystrophin, reduced central nucleation, and rescued the expression of mouse mechano growth factor...
  21. Adams M, Tesch Y, Percival J, Albrecht D, Conhaim J, Anderson K, et al. Differential targeting of nNOS and AQP4 to dystrophin-deficient sarcolemma by membrane-directed alpha-dystrobrevin. J Cell Sci. 2008;121:48-54 pubmed
    ..Thus, although nNOS and AQP4 both require interaction with the PDZ domain of alpha-syntrophin for sarcolemmal association, their localization is regulated differentially...
  22. Bani C, Lagrota Candido J, Pinheiro D, Leite P, Salimena M, Henriques Pons A, et al. Pattern of metalloprotease activity and myofiber regeneration in skeletal muscles of mdx mice. Muscle Nerve. 2008;37:583-92 pubmed publisher
  23. Radley H, De Luca A, Lynch G, Grounds M. Duchenne muscular dystrophy: focus on pharmaceutical and nutritional interventions. Int J Biochem Cell Biol. 2007;39:469-77 pubmed
  24. Meinen S, Ruegg M. Congenital muscular dystrophy: mini-agrin delivers in mice. Gene Ther. 2006;13:869-70 pubmed
  25. Grange R, Gainer T, Marschner K, Talmadge R, Stull J. Fast-twitch skeletal muscles of dystrophic mouse pups are resistant to injury from acute mechanical stress. Am J Physiol Cell Physiol. 2002;283:C1090-101 pubmed
    ..stretch condition. These data suggest that the sarcolemma of maturing dystrophic EDL muscles are resistant to acute mechanical injury...
  26. Dogra C, Changotra H, Wergedal J, Kumar A. Regulation of phosphatidylinositol 3-kinase (PI3K)/Akt and nuclear factor-kappa B signaling pathways in dystrophin-deficient skeletal muscle in response to mechanical stretch. J Cell Physiol. 2006;208:575-85 pubmed
    ..Taken together, our data suggest that loss of dystrophin and/or mechanical stretch results in the up-regulation of P13K/Akt and NF-kappaB signaling pathways in skeletal muscle...
  27. Wilton S, Fletcher S. Modification of pre-mRNA processing: application to dystrophin expression. Curr Opin Mol Ther. 2006;8:130-5 pubmed
    ..This review summarizes some of the events leading up to forthcoming clinical trials in 2006, and speculates on some of the challenges facing targeted exon skipping as a therapy for Duchenne muscular dystrophy...
  28. Sampaolesi M, Torrente Y, Innocenzi A, Tonlorenzi R, D Antona G, Pellegrino M, et al. Cell therapy of alpha-sarcoglycan null dystrophic mice through intra-arterial delivery of mesoangioblasts. Science. 2003;301:487-92 pubmed
    ..The success of this protocol was mainly due to widespread distribution of donor stem cells through the capillary network, a distinct advantage of this strategy over previous approaches...
  29. Briguet A, Courdier Fruh I, Foster M, Meier T, Magyar J. Histological parameters for the quantitative assessment of muscular dystrophy in the mdx-mouse. Neuromuscul Disord. 2004;14:675-82 pubmed
    ..In addition, we compare the variance coefficients of the muscle fiber size with the percentage of muscle fibers with centralized nuclei; another histological hallmark of muscular dystrophy...
  30. Fukushima K, Nakamura A, Ueda H, Yuasa K, Yoshida K, Takeda S, et al. Activation and localization of matrix metalloproteinase-2 and -9 in the skeletal muscle of the muscular dystrophy dog (CXMDJ). BMC Musculoskelet Disord. 2007;8:54 pubmed
    ..Towards this aim, we made use of the canine X-linked muscular dystrophy in Japan (CXMDJ) model, a suitable animal model for Duchenne muscular dystrophy...
  31. McNally E, Pytel P. Muscle diseases: the muscular dystrophies. Annu Rev Pathol. 2007;2:87-109 pubmed
    ..This chapter reviews the basic structural properties of muscle and genetic mechanisms that lead to myopathy and muscular dystrophies that affect all age groups...
  32. Odom G, Gregorevic P, Allen J, Finn E, Chamberlain J. Microutrophin delivery through rAAV6 increases lifespan and improves muscle function in dystrophic dystrophin/utrophin-deficient mice. Mol Ther. 2008;16:1539-45 pubmed publisher
    ..This approach may hold promise as a treatment option for DMD because it avoids the potential immune responses that are associated with the delivery of exogenous dystrophin...
  33. Vetrone S, Montecino Rodriguez E, Kudryashova E, Kramerova I, Hoffman E, Liu S, et al. Osteopontin promotes fibrosis in dystrophic mouse muscle by modulating immune cell subsets and intramuscular TGF-beta. J Clin Invest. 2009;119:1583-94 pubmed publisher
    ..These studies suggest that OPN may be a promising therapeutic target for reducing inflammation and fibrosis in individuals with DMD...
  34. Yugeta N, Urasawa N, Fujii Y, Yoshimura M, Yuasa K, Wada M, et al. Cardiac involvement in Beagle-based canine X-linked muscular dystrophy in Japan (CXMDJ): electrocardiographic, echocardiographic, and morphologic studies. BMC Cardiovasc Disord. 2006;6:47 pubmed
    ..We therefore established a line of dogs with Beagle-based canine X-linked muscular dystrophy in Japan (CXMDJ) and examined the cardiac involvement...
  35. Yuasa K, Sakamoto M, Miyagoe Suzuki Y, Tanouchi A, Yamamoto H, Li J, et al. Adeno-associated virus vector-mediated gene transfer into dystrophin-deficient skeletal muscles evokes enhanced immune response against the transgene product. Gene Ther. 2002;9:1576-88 pubmed
    ..However, resident antigen-presenting cells, such as myoblasts, myotubes and regenerating immature myofibers, might also play a role in the immune response...
  36. Nawrotzki R, Willem M, Miosge N, Brinkmeier H, Mayer U. Defective integrin switch and matrix composition at alpha 7-deficient myotendinous junctions precede the onset of muscular dystrophy in mice. Hum Mol Genet. 2003;12:483-95 pubmed
    ..We propose that the persistence of alpha5beta1D in alpha7-deficient mice is not compatible with normal muscle function and leads to muscle wasting...
  37. Voisin V, Sebrie C, Matecki S, Yu H, Gillet B, Ramonatxo M, et al. L-arginine improves dystrophic phenotype in mdx mice. Neurobiol Dis. 2005;20:123-30 pubmed
    ..Our results suggest that pharmacological activators of the NO pathway may constitute a realistic treatment for Duchenne and Becker muscular dystrophies...
  38. Goyenvalle A, Vulin A, Fougerousse F, Leturcq F, Kaplan J, Garcia L, et al. Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping. Science. 2004;306:1796-9 pubmed
    ..We report the sustained production of functional dystrophin at physiological levels in entire groups of muscles and the correction of the muscular dystrophy...
  39. Krag T, Bogdanovich S, Jensen C, Fischer M, Hansen Schwartz J, Javazon E, et al. Heregulin ameliorates the dystrophic phenotype in mdx mice. Proc Natl Acad Sci U S A. 2004;101:13856-60 pubmed
  40. Sampaolesi M, Blot S, D Antona G, Granger N, Tonlorenzi R, Innocenzi A, et al. Mesoangioblast stem cells ameliorate muscle function in dystrophic dogs. Nature. 2006;444:574-9 pubmed
    ..The outcome is a remarkable clinical amelioration and preservation of active motility. These data qualify mesoangioblasts as candidates for future stem cell therapy for Duchenne patients...
  41. Bostick B, Yue Y, Lai Y, Long C, Li D, Duan D. Adeno-associated virus serotype-9 microdystrophin gene therapy ameliorates electrocardiographic abnormalities in mdx mice. Hum Gene Ther. 2008;19:851-6 pubmed publisher
    ..The cardiomyopathy index was also significantly improved in treated mdx mice. Our study demonstrates for the first time that AAV microdystrophin gene therapy can ameliorate the electrocardiographic abnormalities in a mouse model for DMD...
  42. Vidal B, Serrano A, Tjwa M, Suelves M, Ardite E, De Mori R, et al. Fibrinogen drives dystrophic muscle fibrosis via a TGFbeta/alternative macrophage activation pathway. Genes Dev. 2008;22:1747-52 pubmed publisher
    ..Fibrinogen, by engaging its alphavbeta3 receptor on fibroblasts, also directly promotes collagen synthesis. These data unveil a profibrotic role of fibrinogen deposition in muscle dystrophy...
  43. Wolff A, Niday A, Voelker K, Call J, Evans N, Granata K, et al. Passive mechanical properties of maturing extensor digitorum longus are not affected by lack of dystrophin. Muscle Nerve. 2006;34:304-12 pubmed
    ..Determining this threshold may have important clinical implications for treatments of muscular dystrophy involving physical activity...
  44. Gregorevic P, Allen J, Minami E, Blankinship M, Haraguchi M, Meuse L, et al. rAAV6-microdystrophin preserves muscle function and extends lifespan in severely dystrophic mice. Nat Med. 2006;12:787-9 pubmed
    ..These findings suggest rAAV vector-mediated systemic gene transfer may be useful for treatment of serious neuromuscular disorders such as Duchenne muscular dystrophy...
  45. Minetti G, Colussi C, Adami R, Serra C, Mozzetta C, Parente V, et al. Functional and morphological recovery of dystrophic muscles in mice treated with deacetylase inhibitors. Nat Med. 2006;12:1147-50 pubmed
    ..These results provide a rationale for using deacetylase inhibitors in the pharmacological therapy of muscular dystrophies...
  46. Wang Z, Kuhr C, Allen J, Blankinship M, Gregorevic P, Chamberlain J, et al. Sustained AAV-mediated dystrophin expression in a canine model of Duchenne muscular dystrophy with a brief course of immunosuppression. Mol Ther. 2007;15:1160-6 pubmed
    ..This protocol has potential applications to human clinical trials to enhance AAV-mediated therapies...
  47. Nguyen F, Cherel Y, Guigand L, Goubault Leroux I, Wyers M. Muscle lesions associated with dystrophin deficiency in neonatal golden retriever puppies. J Comp Pathol. 2002;126:100-8 pubmed
  48. Muller J, Vayssiere N, Royuela M, Leger M, Muller A, Bacou F, et al. Comparative evolution of muscular dystrophy in diaphragm, gastrocnemius and masseter muscles from old male mdx mice. J Muscle Res Cell Motil. 2001;22:133-9 pubmed
    ..The reason why this occurs in MAS muscles is still obscure and discussed in terms of the comparative developmental origins of these muscles...
  49. Torrente Y, Tremblay J, Pisati F, Belicchi M, Rossi B, Sironi M, et al. Intraarterial injection of muscle-derived CD34(+)Sca-1(+) stem cells restores dystrophin in mdx mice. J Cell Biol. 2001;152:335-48 pubmed
    ..Our results showed that the muscle-derived stem cells first attach to the capillaries of the muscles and then participate in regeneration after muscle damage...
  50. Rando T, Disatnik M, Zhou L. Rescue of dystrophin expression in mdx mouse muscle by RNA/DNA oligonucleotides. Proc Natl Acad Sci U S A. 2000;97:5363-8 pubmed
    ..These results provide the foundation for further studies of chimeraplast-mediated gene therapy as a therapeutic approach to muscular dystrophies and other genetic disorders of muscle...
  51. Grady R, Grange R, Lau K, Maimone M, Nichol M, Stull J, et al. Role for alpha-dystrobrevin in the pathogenesis of dystrophin-dependent muscular dystrophies. Nat Cell Biol. 1999;1:215-20 pubmed
    ..These results indicate that both signalling and structural functions of the DGC are required for muscle stability, and implicate alpha-dystrobrevin in the former...
  52. Gussoni E, Soneoka Y, Strickland C, Buzney E, Khan M, Flint A, et al. Dystrophin expression in the mdx mouse restored by stem cell transplantation. Nature. 1999;401:390-4 pubmed
    ..Our studies also suggest that the inherent developmental potential of stem cells isolated from diverse tissues or organs may be more similar than previously anticipated...
  53. Lu Q, Morris G, Wilton S, Ly T, Artem yeva O, Strong P, et al. Massive idiosyncratic exon skipping corrects the nonsense mutation in dystrophic mouse muscle and produces functional revertant fibers by clonal expansion. J Cell Biol. 2000;148:985-96 pubmed
    ..The dystrophin gene in the mdx mouse provides a favored system for study of exon skipping associated with nonsense mutations...