Canine and feline models of human inherited muscle diseases

Neuromuscular Disorders

Volumn 15, Issue 2, 2005, Pages 127-138

  Shelton, G Diane ^a   Engvall, Eva ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b BURNHAM INSTITUTE   (United States)

Author keywords

Animal models; Canine; Feline; Mouse; Muscular dystrophy; Myopathy

Indexed keywords

CALPASTATIN; CREATINE KINASE; DESMIN; DYSFERLIN; DYSTROGLYCAN; DYSTROPHIN; FUKUTIN; LAMININ ALPHA2; MUSCLE PROTEIN; MYOSTATIN; PROTEIN BCL 2; PYRUVATE KINASE; SARCOGLYCAN; SPECTRIN; UTROPHIN;

CAT; CLINICAL FEATURE; DOG; DYSTONIA; ELECTROMYOGRAM; FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; GENE MUTATION; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE DISEASE; MUSCLE EYE BRAIN DISEASE; MUSCULAR DYSTROPHY; MYOCLONUS; NEMALINE MYOPATHY; NONHUMAN; NONSENSE MUTATION; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; REVIEW; RODENT; SARCOGLYCANOPATHY; WALKER WARBURG SYNDROME; X CHROMOSOME;

ANIMALS; CATS; DISEASE MODELS, ANIMAL; DOGS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MICE; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUSCULAR DYSTROPHY, ANIMAL; PERIPHERAL NERVES; RATS; SPECIES SPECIFICITY;

EID: 13444267465     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2004.10.019     Document Type: Review

References (94)

1. V. Allamand, and K.P. Campbell Animal models for muscular dystrophy: valuable tools for the development of therapies Hum Mol Genet 9 2000 2459 2467
2. M. Durbeej, and K.P. Campbell Muscular dystrophies involving the dystrophin-glycoprotein complex: an overview of current mouse models Curr Opin Genet Dev 12 2002 349 361
3. J.F. Watchko, T.L. O'Day, and E.P. Hoffman Functional characteristics of dystrophic skeletal muscle: insights from animal models J Appl Physiol 93 2002 407 417
4. G.D. Shelton, and E. Engvall Muscular dystrophies and other inherited myopathies Vet Clin North Am: Small Anim Pract 32 2002 103 124
5. Schatzberg SJ, Shelton GD. Newly identified neuromuscular disorders. Vet Clin North Am: Small Anim Pract [in press].
6. G. Buhlfield, W.G. Stiller, P.A. Wright, and K.J. Moore X chromosome-linked muscular dystrophy (mdx) in the mouse Proc Natl Acad Sci USA 81 1984 1189 1192
7. P. Sicinski, Y. Geng, A.S. Ryder-Cook, E.A. Barnard, M.G. Darlison, and P.J. Barnard The molecular basis of muscular dystrophy in the mdx mouse: a point mutation Science 244 1989 1578 1580
8. V.M. Chapman, D.M. Miller, D. Armstrong, and C.T. Caskey Recovery of induce mutations for X chromosome-linked muscular dystrophy in mice Proc Nat Acad Sci USA 86 1989 1292 1296
9. W.B. Im, S.F. Phelps, E.H. Copen, E.G. Adams, J.L. Slightom, and J.S. Chamberlain Differential expression of dystrophin isoforms in strains of mdx mice with different mutations Hum Mol Genet 5 1996 1149 1153
10. C. Pastoret, and A. Sebille mdx mice show progressive weakness and muscle deterioration with age J Neurol Sci 129 1995 97 105
11. M.J. Spencer, and J.G. Tidball Do immune cells promote the pathology of dystrophin-deficient myopathies? Neuromuscul Disord 11 2001 556 564
12. H. Meier Myopathies in the dog Cornell Vet 48 1958 313 330
13. J. Kornegay, S. Tuler, D. Miller, and D. Levesque Muscular dystrophy in a litter of golden retriever dogs Muscle Nerve 11 1988 1056 1064
14. B.A. Valentine, B.J. Cooper, A. de Lahunta, R. O'Quinn, and J.T. Blue Canine X-linked muscular dystroph. An animal model of Duchenne muscular dystrophy: clinical studies J Neurol Sci 88 1988 69 81
15. B.A. Valentine, N.J. Winand, and D. Pradhan Canine X-linked muscular dystrophy as an animal model of Duchenne muscular dystrophy: a review Am J Med Genet 42 1992 352 356
16. N.J. Sharp, J.N. Kornegay, and S.D. Van Camp An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy Genomics 13 1992 115 121
17. Y. Shimatsu, K. Katagiri, and T. Furuta Canine X-linked muscular dystrophy in Japan (CXMDJ) Exp Anim 52 2003 93 97
18. G. Wentink, J. van der Linde-Sipman, H. Meier, and H. Hendriks Myopathy with a possible X-linked mode of inheritance in a litter of Irish terriers Vet Pathol 9 1972 328 349
19. Gorospe J, Hoffman E, McQuarrie P, Cardinet G. Duchenne muscular dystrophy in a wire-haired fox (WHF) terrier: a new dog model with no somatic reversion. In: Proceedings of the VIIIth International Congress on Human Genetics. 1991, p. 97.
20. J.P. Paola, M. Podell, and G.D. Shelton Muscular dystrophy in a miniature schnauzer Prog Vet Neurol 4 1993 14 18
21. L.M.L. van Ham, M. Desmidt, and M. Tshamala Canine X-linked muscular dystrophy in Belgian Groenendaeler Shepherds J Am Anim Hosp Assoc 29 1993 570 574
22. Winand N, Pradham D, Cooper B. Molecular characterization of severe Duchenne-type muscular dystrophy in a family of rottweiler dogs. In: Molecular mechanisms of neuromuscular disease. Tucson: Muscular Dystrophy Association; 1994.
23. L.M.L. van Ham, S.L.M.F. Roels, and J.K. Hoorens Congenital dystrophy-like myopathy in a Brittany Spaniel puppy Prog Vet Neurol 6 1995 135 138
24. Woods P, Sharp NJ, Schatzberg SJ. Muscular dystrophy in Pembroke Corgis and other dogs. In: Proceedings of the 16th Annual Veterinary Medical Forum. San Diego; 1998, p. 287.
25. S.J. Schatzberg, N.J. Olby, and M. Breen Molecular analysis of a spontaneous dystrophin " knockout " dog Neuromuscul Disord 9 1999 289 295
26. C.A. Wetterman, K.R. Harkin, W.C. Cash, J.C. Nietfield, and G.D. Shelton Hypertrophic muscular dystrophy in a young dog J Am Vet Med Assoc 216 2000 878 881
27. S. Blot, N. Carelle, and N. Deburgrave LRMD: a new canine model of dystrophinopathy in a Labrador Retriever strain J Neurol Sci 199 2002 S9
28. R.L. Bergman, K.D. Inzana, and W.E. Monroe Dystrophin-deficient muscular dystrophy in a Labrador retriever J Am Anim Hosp Assoc 38 2002 255 261
29. B.R. Jones, S. Brennan, and C.T. Mooney Muscular dystrophy with truncated dystrophin in a family of Japanese Spitz dogs J Neurol Sci 217 2004 143 149
30. B.A. Valentine, J.N. Kornegay, and B.J. Cooper Clinical electromyographic studies of canine X-linked muscular dystrophy Am J Vet Res 50 1989 2145 2147
31. N.J. Sharp, J.N. Kornegay, and S.B. Lane The muscular dystrophies Semin Vet Med Surg (Small Anim) 4 1989 133 140
32. B. Valentine, B. Cooper, J. Cummings, and A. de Lahunta Canine X-linked muscular dystrophy: morphologic lesions J Neurol Sci 97 1990 1 23
33. G.D. Shelton, L.A. Liu, and L.T. Guo Muscular dystrophy in female dogs J Vet Intern Med 15 2001 240 244
34. M. Lyon Sex chromatin and gene action in mammalian X-chromosomes Am J Hum Genet 14 1962 135 148
35. S.Q. Harper, M.A. Hauser, and C. Dello Russo Modular flexibility of dystrophin: implications for gene therapy of Duchenne muscular dystrophy Nature Med 8 2002 253 261
36. M. Sakamoto, K. Yuasa, and M. Yohimura Micro-dystrophin cDNA ameliorates dystrophic phenotypes when introduced into mdx mice as a transgene Biochim Biophys Res Commun 293 2002 1265 1272
37. J.H. Vos, J.S. van der Linde-Sipman, and S.A. Goedegebuure Dystrophy-like myopathy in the cat J Comp Pathol 96 1986 335 341
38. J.L. Carpenter, E.P. Hoffman, and F.C. Romanul Feline muscular dystrophy with dystrophin deficiency Am J Pathol 135 1989 909 919
39. F.P. Gashen, E.P. Hoffman, and J.R.M. Gorospe Dystrophin deficiency causes lethal muscle hypertrophy in cats J Neurol Sci 110 1992 149 159
40. N.J. Winand, M. Edwards, D. Pradhan, C.A. Berian, and B.J. Cooper Deletion of the dystrophin muscle promoter in feline muscular dystrophy Neuromuscul Disord 4 1994 433 445
41. F.M. Tome, T. Evangelista, and A. Leclerc Congenital muscular dystrophy with merosin deficiency C R Acad Sci, Ser III 317 1994 351 357
42. Y. Miyagoe-Suzuki, M. Nakagawa, and S. Takeda Merosin and congenital muscular dystrophy Microsc Res Tech 48 2000 181 191
43. A.M. Michelson, E. Russell, and P.J. Harman Dystrophia muscularis: a hereditary primary myopathy in the house mouse Proc Natl Acad Sci USA 41 1955 1079 1084
44. H. Meier, and J.L. Southard Muscular dystrophy in the mouse caused by an allele at the dy-locus Life Sci 9 1970 137 142
45. H. Xu, X.R. Wu, U.M. Wewer, and E. Engvall Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene Nat Genet 8 1994 297 302
46. L.T. Guo, X.U. Zhang, and W. Kuang Laminin alpha 2 deficiency and muscular dystrophy; genotype-phenotype correlation in mutant mice Neuromuscul Disord 13 2003 207 215
47. K.J. Jones, G. Morgan, and H. Johnston The expanding phenotype of laminin α2 chain (merosin) abnormalities: case series and review J Med Genet 38 2001 649 657
48. D.P. O'Brien, G.C. Johnson, and L.A. Liu Laminin α2 (merosin)-deficient muscular dystrophy and demyelinating neuropathy in two cats J Neurol Sci 189 2001 37 43
49. L. Poncelet, A. Resibois, E. Engvall, and G.D. Shelton Laminin α2 deficiency-associated muscular dystrophy in a Maine coon cat J Small Anim Prac 44 2003 550 552
50. I. Leivo, and E. Engvall Merosin, a protein specific for basement membranes of Schwann cells, striated muscle, and trophoblast, is expressed late in nerve and muscle development Proc Natl Acad Sci USA 85 1988 1544 1548
51. A.A. Hack, M.E. Groh, and E.M. McNally Sarcoglycans in muscular dystrophy Microsc Res Tech 48 2000 167 180
52. S.H. Laval, and K.M. Bushby Limb-girdle muscular dystrophies - from genetics to molecular pathology Neuropathol Appl Neurobiol 30 2004 91 105
53. A. Zimprich, M. Grabowski, and F. Asmus Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome Nat Genet 29 2001 66 69
54. V. Straub, F. Duclos, and D.P. Venzke Molecular pathogenesis of muscle degeneration in the delta-sarcoglycan-deficient hamster Am J Pathol 153 1998 1623 1630
55. A. Sakamoto, K. Ono, and M. Abe Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta-sarcoglycan, in hamster: an animal model of disrupted dystrophin-associated glycoprotein complex Proc Natl Acad Sci (USA) 94 1997 13873 13878
56. M. Minieri, M. Zingarelli, and H. Shubeita Identification of a new missense mutation in the mtDNA of hereditary hypertrophic, but not dilated cardiomyopathic hamsters Mol Cell Biochem 252 2003 73 81
57. X. Zhu, M. Hadhazy, M.E. Groh, M.T. Wheeler, R. Wollman, and E.M. McNally Overexpression of gamma-sarcoglycan induces severe muscular dystrophy. Implications for the regulation of sarcoglycan assembly J Biol Chem 276 2001 21785 21790
58. D.J. Wells, K.E. Wells, and F.S. Walsh Human dystrophin expression corrects the myopathic phenotype in transgenic mdx mice Hum Mol Genet 1 1992 35 40
59. C.C. Lee, F. Pons, and P.G. Jones Mdx transgenic mouse: restoration of recombinant dystrophin to the dystrophic muscle Hum Genet Ther 4 1993 273 281
60. Schatzberg S, Whittemore J, Morgan E, et al., Sarcoglycanopathy in 3 dogs. In: Proceedings of the American College of Veterinary Internal Medicine, 22nd Annual Forum, Dallas, TX, 2003.
61. R.A. Williamson, M.D. Henry, and K.J. Daniels Dystroglycan is essential for early embryonic development: disruption of Reichert's membrane in Dag1-null mice Hum Mol Genet 6 1997 831 841
62. P.D. Cote, H. Moukhles, M. Lindenbaum, and S. Carbonetto Chimaeric mice deficient in dystroglycans develop muscular dystrophy and have disrupted myoneural synapses Nat Genet 23 1999 338 342
63. R.D. Cohn, M.D. Henry, and D.E. Michele Disruption of DAG1 in differentiated skeletal muscle reveals a role for dystroglycan in muscle regeneration Cell 110 2002 639 648
64. K. Kobayashi, Y. Hakahori, and M. Miyake An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy Nature 394 1998 388 392
65. L. Aravind, and E.V. Koonin The fukutin protein family - predicted enzymes modifying cell-surface molecules Curr Biol 9 1999 R836 R837
66. A. Yoshida, K. Kobayashi, and H. Manya Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1 Dev Cell 1 2001 717 724
67. D. Beltran-Valero de Bernabe, S. Currier, and A. Steinbrecher Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome Am J Hum Genet 71 2002 1033 1043
68. M. Brockington, D.J. Blake, and P. Prandini Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha 2 deficiency and abnormal glycosylation of alpha-dystroglycan Am J Hum Genet 69 2001 1198 1209
69. P.K. Grewal, P.J. Holzfeind, R.E. Bittner, and J.E. Hewitt Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse Nat Genet 28 2001 151 154
70. D. Bansal, K. Miyake, and S.S. Vogel Defective membrane repair in dysferlin-deficient muscular dystrophy Nature 423 2003 168 172
71. R.E. Bittner, L.V. Anderson, and E. Burkhardt Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B Nat Genet 23 1999 141 142
72. S. Matasubara, T. Kitaguchi, A. Kawata, K. Miyamoto, H. Yagi, and S. Hirai Experimental allergic myositis in SJL/J mouse. Reappraisal of immune reaction based on changes after single immunization J Neuroimmunol 119 2001 223 230
73. Evans J, Levesque D, Shelton GD. Canine inflammatory myopathies: a clinicopathologic review of 200 cases. J Vet Intern Med 2004;18:679-691.
74. M. Pumarola, P.F. Moore, and G.D. Shelton Canine inflammatory myopathy: analysis of cellular infiltrates Muscle Nerve 29 2004 782 789
75. R.C. Betz, B.G. Schoser, and D. Kasper Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease Nat Genet 28 2001 218 219
76. C. Kubisch, B.G. Schoser, and M. von During Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease Ann Neurol 53 2003 512 520
77. S.E. Woodman, F. Sotgia, F. Galbiati, C. Minetti, and M.P. Lisanti Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases Neurology 62 2004 538 543
78. R. Hnasko, and M.P. Lisanti The biology of caveolae: lessons from caveolin knockout mice and implications for human disease Mol Intervent 3 2003 445 464
79. Girgenrath M, Dominov JA, Kostek CA, Miller JB. Inhibition of apoptosis improves outcome in a model of congenital muscular dystrophy. J Clin Invest 2004;114:1635-39.
80. Homma S, Shelton GD, Engvall E, Reed JC, Takayama S. BAG3 deficiency results in massive muscle apoptosis and early lethality. Proc Natl Acad Sci USA [in press].
81. M.J. Spencer, and R.L. Mellgren Overexpression of a calpastatin transgene in mdx muscle reduces dystrophic pathology Hum Mol Genet 11 2002 2645 2655
82. E.R. Barton, L. Morris, A. Musaro, N. Rosenthal, and H.L. Sweeney Muscle-specific expression of insulin-like growth factor I counters muscle decline in mdx mice J Cell Biol 157 2002 137 148
83. S.J. Lee, and A.C. McPherron Regulation of myostatin activity and muscle growth Proc Natl Acad Sci USA 16 2001 9306 9311
84. T.S. Khurana, and K.E. Davies Pharmacological strategies for muscular dystrophy Nat Rev Drug Discov 2 2003 379 390
85. E. Heber-Katz, J.M. Leferovich, K. Bedelbaeva, and D. Gourevitch Spallanzani's mouse: a model of restoration and regeneration Curr Top Microbiol Immunol 280 2004 165 189
86. A.J. Delauche, P.A. Cuddon, M. Podell, K. Devoe, H.C. Powell, and G.D. Shelton Nemaline rods in canine myopathies: 4 case reports and a literature review J Vet Intern Med 12 1998 424 430
87. B.J. Cooper, A. de Lahunta, E.A. Gallagher, and B.A. Valentine Nemaline myopathy of cats Muscle Nerve 9 1986 618 625
88. M.P. Targett, R.J.M. Franklin, N.J. Olby, J. Dyce, J.R. Anderson, and J.E.F. Houlton Central core myopathy in a great dane J Small Anim Pract 35 1994 100 103
89. G.D. Shelton, V. Sammut, S. Homma, S. Takayama, and A.P. Mizisin Myofibrillar myopathy with desmin accumulation in a young Australian Shepherd dog Neuromuscul Disord 14 2004 399 404
90. S. Blot, L. Tiret, A.C. Devillaire, M. Fardeau, and P.A. Dreyfus Phenotypic description of a canine centronuclear myopathy J Neurol Sci 199 2002 S9
91. L. Tiret, S. Blot, J.L. Kessler, H. Gaillot, M. Breen, and J.J. Panthier The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2 Hum Genet 113 2003 297 306
92. R.E. McKerrell, and K.G. Braund Hereditary myopathy in Labrador retrievers: a morphologic study Vet Pathol 23 1986 411 417
93. R.E. McKerrell, and K.G. Braund Hereditary myopathy in Labrador Retrievers: clinical variations J Small Anim Pract 28 1987 479 489
94. N.J. Olby, N.J. Sharp, and L.V. Anderson Evaluation of the dystrophin-glycoprotein complex, alpha-actinin, dysferlin and calpain 3 in an autosomal recessive muscular dystrophy in Labrador retrievers Neuromuscul Disord 11 2001 41 49