Is dystrophin present in the nerve terminal nat the neuromuscular junction? An immunoshistochemical study of the heterozygote dystrophic (mdx) mouse

Neuromuscular junctions (NMJs) were identified by revealing the presence of cholinergic receptors (AChR) with α‐bungarotoxin coupled to the fluorescent dye cascade blue in 9‐ and 60‐day‐old normal and heterozygote mdx mice. Dystrophin was detected by an immunoperoxidase technique. All the muscle fibers of the normal animals observed in cross sections were immunorective for dystrophin and an accumulation of dystrophin was observed at all NMJs identified by α‐bungarotoxin. In the 9‐day‐old mdx heterozygote animals, dystrophin positive, negative, and partially positive muscle cross sections were observed. Four different observations were made in these heterozygote animals on the coexistence of AChR and dystrophin. First, α‐bungarotoxin sites (i.e., NMJs) were observed on dystrophin positive muscle fiber cross sections with an accumulation of dystorphin positive fibers without a dystrophin accumulation at NMJs. Third, there was a coexistence of α‐bungarotoxin and dystrophin labelling at NMJs of muscle fibers with perimeters labelling negative for dystrophin. Fourth, NMJs identified by α‐bungarotoxin, were observed on muscle fibers negative for dystrophin even at the NMJ. These observations suggest that dystrophin is present not only in the muscle membrance but also in the presynaptic nerve terminals.

[1]  J. Huard,et al.  Dystrophin expression in myotubes formed by the fusion of normal and dystrophic myoblasts , 1991, Muscle & nerve.

[2]  Y. Berwald‐Netter,et al.  Dystrophin gene transcribed from different promoters in neuronal and glial cells , 1990, Nature.

[3]  D. Bulman,et al.  Age-Related Conversion of Dystrophin-Negative to -Positive Fiber Segments of Skeletal but not Cardiac Muscle Fibers in Heterozygote mdx Mice , 1990, Journal of neuropathology and experimental neurology.

[4]  T. Miike,et al.  Immunohistochemical dystrophin reaction in synaptic regions , 1989, Brain and Development.

[5]  T. Miike,et al.  Clinical improvement of adrenoleukodystrophy following intravenous gammaglobulin therapy , 1989, Brain and Development.

[6]  Simon C Watkins,et al.  Dystrophin distribution in heterozygote mdx mice , 1989, Muscle & nerve.

[7]  Y. Sunada,et al.  Dense immunostainings on both neuromuscular and myotendon junctions with an anti-dystrophin monoclonal anfibody , 1989 .

[8]  E A Barnard,et al.  The molecular basis of muscular dystrophy in the mdx mouse: a point mutation. , 1989, Science.

[9]  M. Rich,et al.  In vivo visualization of pre- and postsynaptic changes during synapse elimination in reinnervated mouse muscle , 1989, The Journal of neuroscience : the official journal of the Society for Neuroscience.

[10]  L. Kunkel,et al.  Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus , 1989, Nature.

[11]  K. Campbell,et al.  Association of dystrophin and an integral membrane glycoprotein , 1989, Nature.

[12]  H. Blau,et al.  Localization of muscle gene products in nuclear domains , 1989, Nature.

[13]  T. Tsukahara,et al.  Mosaic expression of dystrophin in symptomatic carriers of Duchenne's muscular dystrophy. , 1989, The New England journal of medicine.

[14]  L. Kunkel,et al.  Conversion of mdx myofibres from dystrophin-negative to -positive by injection of normal myoblasts , 1989, Nature.

[15]  Simon C Watkins,et al.  Immunoelectron microscopic localization of dystrophin in myofibres , 1988, Nature.

[16]  Hideo Sugita,et al.  Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide , 1988, Nature.

[17]  Jamel Chelly,et al.  Transcription of the dystrophin gene in human muscle and non-muscle tissues , 1988, Nature.

[18]  R. Hodges,et al.  The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle , 1988, Nature.

[19]  K. Robzyk,et al.  Expression of the putative Duchenne muscular dystrophy gene in differentiated myogenic cell cultures and in the brain , 1988, Nature.

[20]  A. Monaco,et al.  Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. , 1985, Proceedings of the National Academy of Sciences of the United States of America.

[21]  M. Anderson,et al.  Fluorescent staining of acetylcholine receptors in vertebrate skeletal muscle , 1974, The Journal of physiology.

[22]  T. Tsukahara,et al.  Negative immunostaining of Duchenne muscular dystrophy(DMD) and mdx muscle surface membrane with antibody against synthetic peptide fragment predicted from DMD cDNA. , 1988 .

[23]  S. Dimauro,et al.  RAPID COMMUNICATION Immunocytochemical Study of Dystrophin in Muscle Culturesfrom Patients with Duchenne Muscular Dystrophy and Unaffected Control Patients , 2022 .

[24]  Eric P. Hoffman,et al.  Dystrophin: The protein product of the duchenne muscular dystrophy locus , 1987, Cell.

[25]  M. W. Thompson,et al.  Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy , 1985, Nature.