Mutual interference of myotonia and muscular dystrophy in the mouse: A study on ADR-MDX double mutants

Heimann P, Augustin M, Wieneke S, Heising S, Jockusch H (1998)
Neuromuscular disorders 8(8): 551-560.

Download
Es wurde kein Volltext hochgeladen. Nur Publikationsnachweis!
Zeitschriftenaufsatz | Veröffentlicht | Englisch
Autor
; ; ; ;
Abstract / Bemerkung
For Duchenne muscular dystrophy (DMD, dystrophin deficiency) and Thomsen/Becker myotonia (muscular chloride channel deficiency) genetically homologous mouse models are available, the dystrophin-deficient MDX mouse and the myotonic ADR mouse. Whereas the latter shows more severe symptoms than human myotonia patients, the MDX mouse, in contrast to DMD patients, is only mildly affected. We have introduced, by appropriate breeding, the defect leading to myotonia (Clc1 null mutation, ndr allele) into MDX mice, thus creating ADR-MDX double mutants. The expectation was that, due to mechanical stress during myotonic cramps, the ADR status should symptomatically aggravate the muscle fibre necrosis caused by the dystrophin deficiency. The overall symptoms of the double mutants were dominated by myotonia. Weight reduction and premature death rate were higher in ADR-MDX than in ADR mice. Sarcolemmal ruptures as indicated by influx into muscle fibres of serum globulins and injected Evans blue were found with great inter-individual variation in MDX and in ADR-MDX muscles. Affected fibres were found mainly in large groups in MDX but single or in small clusters in ADR-MDX leg muscles. The symptoms of myotonia (aftercontractions, shift towards oxidative fibres) were less pronounced in ADR-MDX than in ADR muscles. Conversely, numbers of damaged fibres as well as the percentage of central nuclei (an indicator of fibre regeneration) were significantly lower in ADR-MDX than in MDX skeletal muscles. Thus it appears that, at the level of the muscle fibre, myotonia and muscular dystrophy attenuate each other. (C) 1998 Elsevier Science B.V. All rights reserved.
Erscheinungsjahr
Zeitschriftentitel
Neuromuscular disorders
Band
8
Ausgabe
8
Seite(n)
551-560
ISSN
PUB-ID

Zitieren

Heimann P, Augustin M, Wieneke S, Heising S, Jockusch H. Mutual interference of myotonia and muscular dystrophy in the mouse: A study on ADR-MDX double mutants. Neuromuscular disorders. 1998;8(8):551-560.
Heimann, P., Augustin, M., Wieneke, S., Heising, S., & Jockusch, H. (1998). Mutual interference of myotonia and muscular dystrophy in the mouse: A study on ADR-MDX double mutants. Neuromuscular disorders, 8(8), 551-560. doi:10.1016/S0960-8966(98)00079-0
Heimann, P., Augustin, M., Wieneke, S., Heising, S., and Jockusch, H. (1998). Mutual interference of myotonia and muscular dystrophy in the mouse: A study on ADR-MDX double mutants. Neuromuscular disorders 8, 551-560.
Heimann, P., et al., 1998. Mutual interference of myotonia and muscular dystrophy in the mouse: A study on ADR-MDX double mutants. Neuromuscular disorders, 8(8), p 551-560.
P. Heimann, et al., “Mutual interference of myotonia and muscular dystrophy in the mouse: A study on ADR-MDX double mutants”, Neuromuscular disorders, vol. 8, 1998, pp. 551-560.
Heimann, P., Augustin, M., Wieneke, S., Heising, S., Jockusch, H.: Mutual interference of myotonia and muscular dystrophy in the mouse: A study on ADR-MDX double mutants. Neuromuscular disorders. 8, 551-560 (1998).
Heimann, Peter, Augustin, M, Wieneke, S, Heising, S, and Jockusch, Harald. “Mutual interference of myotonia and muscular dystrophy in the mouse: A study on ADR-MDX double mutants”. Neuromuscular disorders 8.8 (1998): 551-560.

9 Zitationen in Europe PMC

Daten bereitgestellt von Europe PubMed Central.

Fatigue-inducing stimulation resolves myotonia in a drug-induced model.
van Lunteren E, Spiegler SE, Moyer M., BMC Physiol 11(), 2011
PMID: 21356096
Impaired Wheel Running Exercise in CLC-1 Chloride Channel-Deficient Myotonic Mice.
van Lunteren E, Moyer M, Cooperrider J, Pollarine J., Front Physiol 2(), 2011
PMID: 21886624
Specific isomyosin proportions in hyperexcitable and physiologically denervated mouse muscle.
Agbulut O, Noirez P, Butler-Browne G, Jockusch H., FEBS Lett 561(1-3), 2004
PMID: 15013776
Acute pathophysiological effects of muscle-expressed Dp71 transgene on normal and dystrophic mouse muscle.
Wieneke S, Heimann P, Leibovitz S, Nudel U, Jockusch H., J Appl Physiol (1985) 95(5), 2003
PMID: 14555666
Calcium ion in skeletal muscle: its crucial role for muscle function, plasticity, and disease.
Berchtold MW, Brinkmeier H, Müntener M., Physiol Rev 80(3), 2000
PMID: 10893434
Generation of tension by skinned fibers and intact skeletal muscles from desmin-deficient mice.
Wieneke S, Stehle R, Li Z, Jockusch H., Biochem Biophys Res Commun 278(2), 2000
PMID: 11097852

44 References

Daten bereitgestellt von Europe PubMed Central.

The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein.
Koenig M, Monaco AP, Kunkel LM., Cell 53(2), 1988
PMID: 3282674
Dystrophin and the membrane skeleton.
Ervasti JM, Campbell KP., Curr. Opin. Cell Biol. 5(1), 1993
PMID: 8448034
Dystrophin protects the sarcolemma from stresses developed during muscle contraction.
Petrof BJ, Shrager JB, Stedman HH, Kelly AM, Sweeney HL., Proc. Natl. Acad. Sci. U.S.A. 90(8), 1993
PMID: 8475120
Mechanical function of dystrophin in muscle cells.
Pasternak C, Wong S, Elson EL., J. Cell Biol. 128(3), 1995
PMID: 7844149
Increased activity of calcium leak channels in myotubes of Duchenne human and mdx mouse origin.
Fong PY, Turner PR, Denetclaw WF, Steinhardt RA., Science 250(4981), 1990
PMID: 2173137
Calcium entry through stretch-inactivated ion channels in mdx myotubes.
Franco A Jr, Lansman JB., Nature 344(6267), 1990
PMID: 1691450
X chromosome-linked muscular dystrophy (mdx) in the mouse.
Bulfield G, Siller WG, Wight PA, Moore KJ., Proc. Natl. Acad. Sci. U.S.A. 81(4), 1984
PMID: 6583703
The molecular basis of muscular dystrophy in the mdx mouse: a point mutation.
Sicinski P, Geng Y, Ryder-Cook AS, Barnard EA, Darlison MG, Barnard PJ., Science 244(4912), 1989
PMID: 2662404
Skeletal muscle pathology in X chromosome-linked muscular dystrophy (mdx) mouse
Tanabe, Acta Neuropathol (Berl) 69(1–2), 1986
Serum parvalbumin, an indicator of muscle disease in murine dystrophy and myotonia.
Jockusch H, Friedrich G, Zippel M., Muscle Nerve 13(6), 1990
PMID: 2366828
Increased susceptibility of EDL muscles from mdx mice to damage induced by contractions with stretch.
Moens P, Baatsen PH, Marechal G., J. Muscle Res. Cell. Motil. 14(4), 1993
PMID: 7693747
The myotonic mouse mutant ADR: physiological and histochemical properties of muscle.
Reininghaus J, Fuchtbauer EM, Bertram K, Jockusch H., Muscle Nerve 11(5), 1988
PMID: 2967431
The myotonic mouse mutant ADR: electrophysiology of the muscle fiber.
Mehrke G, Brinkmeier H, Jockusch H., Muscle Nerve 11(5), 1988
PMID: 2453798
Inactivation of muscle chloride channel by transposon insertion in myotonic mice.
Steinmeyer K, Klocke R, Ortland C, Gronemeier M, Jockusch H, Grunder S, Jentsch TJ., Nature 354(6351), 1991
PMID: 1659665

AUTHOR UNKNOWN, 0
Increased density of satellite cells in the absence of fibre degeneration in muscle of myotonic mice.
Schimmelpfeng J, Jockusch H, Heimann P., Cell Tissue Res. 249(2), 1987
PMID: 3621304
Calcium-binding protein, parvalbumin, is reduced in mutant mammalian muscle with abnormal contractile properties.
Stuhlfauth I, Reininghaus J, Jockusch H, Heizmann CW., Proc. Natl. Acad. Sci. U.S.A. 81(15), 1984
PMID: 6589628

AUTHOR UNKNOWN, 0
Subtractive cDNA cloning as a tool to analyse secondary effects of a muscle disease. Characterization of affected genes in the myotonic ADR mouse
Schleef, Neuromusc Disord 4(3), 1994
MyoD or Myf-5 is required for the formation of skeletal muscle.
Rudnicki MA, Schnegelsberg PN, Stead RH, Braun T, Arnold HH, Jaenisch R., Cell 75(7), 1993
PMID: 8269513
MyoD is required for myogenic stem cell function in adult skeletal muscle.
Megeney LA, Kablar B, Garrett K, Anderson JE, Rudnicki MA., Genes Dev. 10(10), 1996
PMID: 8675005
Skeletal and cardiac myopathies in mice lacking utrophin and dystrophin: a model for Duchenne muscular dystrophy.
Grady RM, Teng H, Nichol MC, Cunningham JC, Wilkinson RS, Sanes JR., Cell 90(4), 1997
PMID: 9288752
Utrophin-dystrophin-deficient mice as a model for Duchenne muscular dystrophy.
Deconinck AE, Rafael JA, Skinner JA, Brown SC, Potter AC, Metzinger L, Watt DJ, Dickson JG, Tinsley JM, Davies KE., Cell 90(4), 1997
PMID: 9288751

AUTHOR UNKNOWN, 0

AUTHOR UNKNOWN, 0
Biological features of the new A2G-adr mouse mutant with abnormal muscle function
Watkins, Lab Animals 18(), 1984
The mouse Clc1/myotonia gene: ETn insertion, a variable AATC repeat, and PCR diagnosis of alleles.
Schnulle V, Antropova O, Gronemeier M, Wedemeyer N, Jockusch H, Bartsch JW., Mamm. Genome 8(10), 1997
PMID: 9321463
Defect of sperm assembly in a neurological mutant of the mouse, wobbler (WR).
Heimann P, Laage S, Jockusch H., Differentiation 47(2), 1991
PMID: 1955109
Neonatal myosin heavy chains are not expressed in Ni-induced rat rhabdomyosarcoma.
Borrione AC, Zanellato AM, Saggin L, Mazzoli M, Azzarello G, Sartore S., Differentiation 38(1), 1988
PMID: 3181651
Myotonia and neuromuscular transmission in the mouse.
Koltgen D, Brinkmeier H, Jockusch H., Muscle Nerve 14(8), 1991
PMID: 1653899
Myotonic mice show reduced spontaneous motor activity
Koeltgen, Mouse Genome 86(), 1990
Chloride conductance in mouse muscle is subject to post-transcriptional compensation of the functional Cl- channel 1 gene dosage.
Chen MF, Niggeweg R, Iaizzo PA, Lehmann-Horn F, Jockusch H., J. Physiol. (Lond.) 504 ( Pt 1)(), 1997
PMID: 9350619
Visualization of dystrophic muscle fibers in mdx mouse by vital staining with Evans blue: evidence of apoptosis in dystrophin-deficient muscle
Matsuda, J Biochem (Tokyo) 118(5), 1995
Animal models for muscular dystrophy show different patterns of sarcolemmal disruption.
Straub V, Rafael JA, Chamberlain JS, Campbell KP., J. Cell Biol. 139(2), 1997
PMID: 9334342
Loss, restoration, and maintenance of plasma membrane integrity.
McNeil PL, Steinhardt RA., J. Cell Biol. 137(1), 1997
PMID: 9105031
Developmental control of the excitability of muscle: transplantation experiments on a myotonic mouse mutant.
Fuchtbauer EM, Reininghaus J, Jockusch H., Proc. Natl. Acad. Sci. U.S.A. 85(11), 1988
PMID: 3375245
Axonal sprouting and changes in fibre types after running-induced muscle damage.
Wernig A, Salvini TF, Irintchev A., J. Neurocytol. 20(11), 1991
PMID: 1722241
Muscle fibers of mdx mice are more vulnerable to exercise than those of normal mice.
Brussee V, Tardif F, Tremblay JP., Neuromuscul. Disord. 7(8), 1997
PMID: 9447605
Exploring the mammalian neuromuscular system by analysis of mutations: spinal muscular atrophy and myotonia.
Jockusch H, Kaupmann K, Gronemeier M, Schleef M, Klocke R., Prog. Neurobiol. 42(2), 1994
PMID: 8008830

Export

Markieren/ Markierung löschen
Markierte Publikationen

Open Data PUB

Web of Science

Dieser Datensatz im Web of Science®

Quellen

PMID: 10093061
PubMed | Europe PMC

Suchen in

Google Scholar