Exploring the mammalian neuromuscular system by analysis of mutations: Spinal muscular atrophy and myotonia

Jockusch, Harald; Kaupmann, Klemens; Gronemeier, Monika; Schleef, Martin; Klocke, Rainer

doi:10.1016/0301-0082(94)90071-x

Cited by 9 publications

(2 citation statements)

References 35 publications

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“…In mature muscle, CIC-1 expression [24], like that of parvalbumin [23], is highly dependent on fiber types, innervation, and pattern of electrical activity [25]. On the other hand, desmin mRNA and protein are classical markers of early muscle differentiation; its expression is not nerve-dependent [26,27].…”

Section: Discussionmentioning

confidence: 99%

Expression of chloride channel 1 mRNA in cultured myogenic cells: a marker of myotube maturation

1996

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The chloride channel CIC-1 is required to maintain a normal excitability of mature muscle fibers; its blockade leads to hyperexcitability, the hallmark of the disease myotonia. In mouse and rat myotubes, representing the embryonic stage of muscle, CIC-1 mRNA is not detectable by Northern blotting. From neonatal to adult, CIC-1 expression increases at least fourfold. Using RT-PCR and hybridization on cultured myotubes we found CIC-1 mRNA at a level of 0.4-1.1% of that in mature mouse muscle, and -<0.01% in myoblasts, at stages when desmin mRNA levels are already high. The level of CIC-1 mRNA is thus a sensitive and specific indicator of the maturation of skeletal muscle cells.

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Section: Discussionmentioning

confidence: 99%

Expression of chloride channel 1 mRNA in cultured myogenic cells: a marker of myotube maturation

1996

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“…The adr mutation, which causes hyperexcitability of muscle fibers by reducing sarcolemmal chloride conductance, 39 has played a decisive role in the molecular identification of myotonia genes in mouse 23,47 and man. 32 In addition, physiological and developmental aspects of the disease were studied in the ADR mouse model, and primary 12,25,49 as well as secondary 24,31,44 effects on muscle physiology and gene expression have been unraveled, in part by experimental procedures that are only feasible with animal models, such as genetic complementation tests 26 and surgical transplantation.…”

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confidence: 99%

Expression of nerve-regulated genes in muscles of mouse mutants affected by spinal muscular atrophies and muscular dystrophies

1997

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Immunohistological analyses of neutral glycosphingolipids and gangliosides in normal mouse skeletal muscle and in mice with neuromuscular diseases

et al. 1995

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The expression of neutral glycosphingolipids (GSLs) and gangliosides was investigated in cryosections of normal mouse skeletal muscle and in muscle of mice with neuromuscular diseases using indirect immunofluorescence microscopy. Transversal and longitudinal sections were immunostained with specific polyclonal antibodies against lactosylceramide, lacto-N-neotetraosylceramide, globoside, GM3(Neu5Ac), GM3(Neu5Gc) and Gm1(Neu5Ac) as well as monoclonal anti-Forssman GSL antibody. In normal CBA/J mouse muscle (control) the main immunohistochemically detected ganglioside was GM3(Neu5Ac) followed by moderately expressed GM3(Neu5Gc) and GM1. The neutral GSLs lactosylceramide and globoside were stained with almost identical, high fluorescence intensity. Low amounts of lacto-N-neotetraosylceramide and trace quantities of Forssman GSL were immunostained. All GSLs were detected in the sarcolemma, but also in considerable amounts at the intracellular level. Mice with neuromuscular diseases were the A2G-adr mouse mutant (a model for human recessive myotonia of Becker type), the BL6-wr mutant (a model for motor neuron disease) and the BL10-mdx mouse mutant (a model for human Duchenne muscular dystrophy). No changes in GSL expression were found in the A2G-adr mouse, while muscle of the BL6-wr mouse showed increased intensity of immunofluorescence in stainings with anti-lactosylceramide and anti-GM3(Neu5Ac) antibodies. Muscle of BL10-mdx mice showed the most prominent changes in GSL expression with reduced fluorescence intensity for all antibodies. Major differences were not observed in the intensities of GSLs, but there were significant differences in the patterns of distribution on plasma membrane and at the subcellular level. The exact nature and pathogenesis of these changes should be elucidated since such investigations could furnish advances in understanding the functional role of neutral GSLs and gangliosides in normal as well as in diseased muscle.

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Exploring the mammalian neuromuscular system by analysis of mutations: Spinal muscular atrophy and myotonia

Cited by 9 publications

References 35 publications

Expression of chloride channel 1 mRNA in cultured myogenic cells: a marker of myotube maturation

Expression of chloride channel 1 mRNA in cultured myogenic cells: a marker of myotube maturation

Expression of nerve-regulated genes in muscles of mouse mutants affected by spinal muscular atrophies and muscular dystrophies

Immunohistological analyses of neutral glycosphingolipids and gangliosides in normal mouse skeletal muscle and in mice with neuromuscular diseases

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