Myotonic ADR-MDX mutant mice show less severe muscular dystrophy than MDX mice

Neuromuscular Disorders

Volumn 8, Issue 8, 1998, Pages 542-550

  Krämer, Regina ^a   Lochmüller, Hanns ^b   Abicht, Angela ^b   Rüdel, Reinhardt ^a   Brinkmeier, Heinrich ^a  

^a UNIVERSITY OF ULM   (Germany)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

CIC 1; Duchenne muscular dystrophy; Dystrophin; Muscle fiber type; Myotonia; Physiotherapy

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CELL PROTECTION; FEMALE; GENE MUTATION; HEREDITARY SPINAL MUSCULAR ATROPHY; MALE; MECHANICAL STRESS; MOUSE; NONHUMAN; OXYGEN CONSUMPTION; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN DETERMINATION; X CHROMOSOME LINKAGE;

AGE FACTORS; ANIMALS; BEHAVIOR, ANIMAL; BODY WEIGHT; BREEDING; CREATINE KINASE; CROSSES, GENETIC; DIAPHRAGM; DISEASE MODELS, ANIMAL; FEMALE; GENOTYPE; HOMOZYGOTE; MALE; MICE; MICE, INBRED C57BL; MICE, INBRED MDX; MICE, MUTANT STRAINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, ANIMAL; MYOTONIA; ORGAN SIZE; PHENOTYPE;

EID: 16744361859     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(98)00078-9     Document Type: Article

References (45)

1. [1] Huffman EP, Brown RH Jr, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987;51:919-928.
2. [2] Campbell KP. Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage. Cell 1995;80:675-679.
3. [3] Emery AEH, Emery MLH. Refining the clinical picture. In: Emery AEH, Emery MLH, editors. The history of a genetic disease: Duchenne muscular dystrophy or Meryon's disease. London: The Royal Society of Medicine Press Limited, 1995:89-99.
4. [4] Engel AG, Yamamoto M, Fischbeck KH. Dystrophinopathies. In: Engel AG, Franzini-Armstrong C, editors. Myology. 2nd Ed. New York: Mc Graw-Hill, 1994:1130-1291.
5. [5] Sicinski P, Geng Y, Ryder Cook AS, Barnard EA, Darlison MG, Barnard PJ. The molecular basis of muscular dystrophy in the mdx mouse: a point mutation. Science 1989;244:1578-1580.
6. [6] Hoffman EP, Gorospe JRM. The animal models of Duchenne muscular dystrophy: windows on the pathophysiological consequences of dystrophin deficiency. Curr Topics Membr 1991;38:113-154.
7. [7] McArdle A, Edwards RH, Jackson MJ. How does dystrophin deficiency lead to muscle degeneration?-evidence from the mdx mouse. Neuromusc Disord 1995;5:445-456.
8. [8] Gillis JM. Membrane abnormalities and Ca homeostasis in muscles of the mdx mouse, an animal model of the Duchenne muscular dystrophy: a review. Acta Physiol Scand 1996;156:397-406.
9. [9] Bodensteiner JB, Engel AG. Intracellular calcium accumulation in Duchenne dystrophy and other myopathies: a study of 567 000 muscle fibers in 114 biopsies. Neurology 1978;28:439-446.
10. [10] Jackson MJ, Jones DA, Edwards RH. Measurements of calcium and other elements in muscle biopsy samples from patients with Duchenne muscular dystrophy. Clin Chim Acta 1985;147:215-221.
11. [11] Glesby MJ, Rosenmann E, Nylen EG, Wrogemann K. Serum CK, calcium, magnesium, and oxidative phosphorylation in mdx mouse muscular dystrophy. Muscle Nerve 1988;11:852-856.
12. [12] Zellweger H, Durnin R, Simpson J. The diagnostic significance of serum enzymes and electrocardiogram in various muscular dystrophies. Acta Neurol Scand 1972;48:87-101.
13. [13] Florence JM, Fox PT, Planer GJ, Brooke MH. Activity, creatine kinase, and myoglobin in Duchenne muscular dystrophy: a clue to etiology? Neurology 1985;35:758-761.
14. [14] McArdle A, Edwards RH, Jackson MJ. Time course of changes in plasma membrane permeability in the dystrophin-deficient mdx mouse. Muscle Nerve 1994;17:1378-1384.
15. [15] Suh JG, Yamazaki A, Tomita T. Breeding of the gad-mdx mouse: influence of genetically induced denervation on dystrophic muscle fibers. Lab Anim Sci 1994;44:42-46.
16. [16] Mehrke G, Brinkmeier H, Jockusch H. The myotonic mouse mutant ADR: electrophysiology of the muscle fiber. Muscle Nerve 1988;11:440-446.
17. [17] Reininghaus J, Füchtbauer EM, Bertram K, Jockusch H. The myotonic mouse mutant ADR: physiological and histochemical properties of muscle. Muscle Nerve 1988;11:433-439.
18. [18] Rüdel R. The myotonic mouse - a realistic model for the study of human recessive generalized myotonia. Trends Neurosci 1990;13:1-3.
19. [19] Wischmeyer E, Nolte E, Klocke R, Jockusch H, Brinkmeier H. Development of electrical myotonia in the ADR mouse: role of chloride conductance in myotubes and neonatal animals. Neuromusc Disord 1993;3:267-274.
20. [20] Steinmeyer K, Klocke R, Ortland C, Gronemeier M, Jockusch H, Gründer S, Jentsch TJ. Inactivation of muscle chloride channel by transposon insertion in myotonic mice. Nature 1991;354:304-308.
21. [21] Gronemeier M, Condie A, Presser J, Steinmeyer K, Jentsch TJ, Jockusch H. Nonsense and missense mutations in the muscular chloride channel gene ClC-1 of myotonic mice. J Biol Chem 1994;269:5963-5967.
22. [22] Gurnett CA, Kahl SD, Anderson RD, Campbell KP. Absence of the skeletal muscle sarcolemma chloride channel ClC-1 in myotonic mice. J Biol Chem 1995;270:9035-9038.
23. [23] Lehmann-Horn F, Rüdel R. Molecular pathophysiology of voltagegated ion channels. Rev Physiol Biochem Pharmacol 1996;128:195-268.
24. [24] Heimann P, Augustin M, Wienecke S, Heising S, Jockusch H. Mutual interference of myotonia and muscular dystrophy in the mouse: a study on ADR.MDX double mutants. Neuromusc Disord, 1998;8:551-560.
25. [25] Watkins WJ, Watts DC. Developmental changes in lactate dehydrogenase and aldolase activity of the A2G-adr mouse with abnormal muscle function: further comparison with the 129Re-dy mutant. J Neurochem 1984;43:517-521.
26. [26] Shrager JB, Naji A, Kelly AM, Stedman HH. A PCR-based assay for the wild-type dystrophin gene transferred into the mdx mouse. Muscle Nerve 1992;15:1133-1137.
27. [27] Schnülle V, Antropova O, Gronemeier M, Wedemeyer N, Jockusch H, Bartsch JW. The mouse Clc1/myotonia gene: ETn insertion, a variable AATC repeat, and PCR diagnosis of alleles. Mamm Genome 1997;8:718-725.
28. [28] Dubowitz V. Muscle Biopsy: a practical approach. 2nd Ed. London: Bailliere, Tindall and Cox, 1985.
29. [29] Watts RL, Watkins WJ, Watts DC. A new mouse mutant with abnormal muscle function: comparison with the 129Re-dy mouse. In: Lunt GG, Marchbanks RM, editors. The biochemistry of myasthenia gravis and muscular dystrophy. New York: Academic Press, 1978:331-335.
30. [30] Stedman HH, Sweeney HL, Shrager JB, et al. The mdx mouse diaphragm reproduces the degenerative changes of Duchenne muscular dystrophy. Nature 1991;352:536-539.
31. [31] Petrof BJ, Stedman HH, Shrager JB, Eby J, Sweeney HL, Kelly AM. Adaptations in myosin heavy chain expression and contractile function in dystrophic mouse diaphragm. Am J Physiol 1993;265:C834-C841.
32. [32] Brussee V, Tardif F, Tremblay JP. Muscle fibers of mdx mice are more vulnerable to exercise than those of normal mice. Neuromusc Disord 1998;7:487-492.
33. [33] Bonsett CA. Pseudohypertrophic muscular dystrophy: Distribution of degenerative features as revealed by an anatomical study. Neurology 1963;13:728-738.
34. [34] Menke A, Jockusch H. Decreased osmotic stability of dystrophinless muscle cells from the mdx mouse [see comments]. Nature 1991;349:69-71.
35. [35] Menke A, Jockusch H. Extent of shock-induced membrane leakage in human and mouse myotubes depends on dystrophin. J Cell Sci 1995;108:727-733.
36. [36] Pasternak C, Wong S, Elson EL. Mechanical function of dystrophin in muscle cells. J Cell Biol 1995;128:355-361.
37. [37] Jockusch H. Muscle fibre transformations in myotonic mouse mutants. In: Pette D, editor. The dynamic state of muscle fibres. Berlin: de Gruyter, 1990:429-443.
38. [38] Engel WK, Brooke MH. Histochemistry of the myotonic disorders. In: Kuhn E, editor. Progressive Musskeldystrophie -Myotonie -Myasthenie. Heidelberg: Springer, 1966.
39. [39] Karpati G, Carpenter S. Small-caliber skeletal muscle fibers do not suffer deleterious consequences of dystrophic gene expression. Am J Med Genet 1986;25:653-658.
40. [40] Karpati G, Carpenter S, Prescott S. Small-caliber skeletal muscle fibers do not suffer necrosis in mdx mouse dystrophy. Muscle Nerve 1988;11:795-803.
41. [41] Webster C, Silberstein L, Hays AP, Blau HM. Fast muscle fibers are preferentially affected in Duchenne muscular dystrophy. Cell 1988;52:503-513.
42. [42] Dubrovsky AL, Taratuto AL, Sevlever G, Schultz M, Pegoraro E, Hoop RC, Hoffman EP. Duchenne muscular dystrophy and myotonic dystrophy in the same patient. Am J Med Genet 1995;55:342-348.
43. [43] Sandri M, Podhorska-Okolow M, Geromel V, Rizzi C, Arslan P, Franceschi C, Carraro U. Exercise induces myonuclear ubiquitination and apoptosis in dystrophin-deficient muscle of mice. J Neuropathol Exp Neurol 1997;56:45-57.
44. [44] Scott OM, Hyde SA, Goddard C, Jones R, Dubowitz V. Effect of exercise in Duchenne muscular dystrophy. Physiotherapy 1981; 67:174-176.
45. [45] Hays AP, Williams DA. Contractile properties of clenbuterol treated mdx muscle are enhanced by low-intensity swimming. J Appl Physiol 1997;82:435-439.