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

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 m...

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Veröffentlicht in:Neuromuscular disorders : NMD 1998-12, Vol.8 (8), p.551-560
Hauptverfasser: Heimann, Peter, Augustin, Martin, Wieneke, Sascha, Heising, Sandra, Jockusch, Harald
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container_end_page 560
container_issue 8
container_start_page 551
container_title Neuromuscular disorders : NMD
container_volume 8
creator Heimann, Peter
Augustin, Martin
Wieneke, Sascha
Heising, Sandra
Jockusch, Harald
description 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, adr 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.
doi_str_mv 10.1016/S0960-8966(98)00079-0
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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. 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Augustin, Martin ; Wieneke, Sascha ; Heising, Sandra ; Jockusch, Harald</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c361t-c478212408cc2d6095823c9ac8cb07280a248c68e60e003ec7ee0377371caa343</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>Animals</topic><topic>Body Weight - genetics</topic><topic>Crosses, Genetic</topic><topic>Dystrophin</topic><topic>Evans blue</topic><topic>Female</topic><topic>Force generation</topic><topic>Male</topic><topic>Membrane ruptures</topic><topic>Mice</topic><topic>Mice, Inbred C57BL</topic><topic>Mice, Inbred mdx</topic><topic>Mice, Mutant Strains</topic><topic>Microscopy, Electron</topic><topic>Motor Activity - genetics</topic><topic>Muscle Contraction - genetics</topic><topic>Muscle, Skeletal - pathology</topic><topic>Muscle, Skeletal - physiology</topic><topic>Muscle, Skeletal - ultrastructure</topic><topic>Muscular chloride channel (ClC-1)</topic><topic>Muscular Dystrophy, Animal - diagnosis</topic><topic>Muscular Dystrophy, Animal - genetics</topic><topic>Muscular Dystrophy, Animal - mortality</topic><topic>Muscular Dystrophy, Animal - physiopathology</topic><topic>Myotonia - diagnosis</topic><topic>Myotonia - genetics</topic><topic>Myotonia - mortality</topic><topic>Myotonia - physiopathology</topic><topic>Regeneration</topic><topic>Spontaneous motor activity</topic><topic>Survival Rate</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Heimann, Peter</creatorcontrib><creatorcontrib>Augustin, Martin</creatorcontrib><creatorcontrib>Wieneke, Sascha</creatorcontrib><creatorcontrib>Heising, Sandra</creatorcontrib><creatorcontrib>Jockusch, Harald</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Neuromuscular disorders : NMD</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Heimann, Peter</au><au>Augustin, Martin</au><au>Wieneke, Sascha</au><au>Heising, Sandra</au><au>Jockusch, Harald</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutual interference of myotonia and muscular dystrophy in the mouse: a study on ADR-MDX double mutants</atitle><jtitle>Neuromuscular disorders : NMD</jtitle><addtitle>Neuromuscul Disord</addtitle><date>1998-12-01</date><risdate>1998</risdate><volume>8</volume><issue>8</issue><spage>551</spage><epage>560</epage><pages>551-560</pages><issn>0960-8966</issn><eissn>1873-2364</eissn><abstract>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, adr 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.</abstract><cop>England</cop><pub>Elsevier B.V</pub><pmid>10093061</pmid><doi>10.1016/S0960-8966(98)00079-0</doi><tpages>10</tpages></addata></record>
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subjects Animals
Body Weight - genetics
Crosses, Genetic
Dystrophin
Evans blue
Female
Force generation
Male
Membrane ruptures
Mice
Mice, Inbred C57BL
Mice, Inbred mdx
Mice, Mutant Strains
Microscopy, Electron
Motor Activity - genetics
Muscle Contraction - genetics
Muscle, Skeletal - pathology
Muscle, Skeletal - physiology
Muscle, Skeletal - ultrastructure
Muscular chloride channel (ClC-1)
Muscular Dystrophy, Animal - diagnosis
Muscular Dystrophy, Animal - genetics
Muscular Dystrophy, Animal - mortality
Muscular Dystrophy, Animal - physiopathology
Myotonia - diagnosis
Myotonia - genetics
Myotonia - mortality
Myotonia - physiopathology
Regeneration
Spontaneous motor activity
Survival Rate
title Mutual interference of myotonia and muscular dystrophy in the mouse: a study on ADR-MDX double mutants
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