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Myasthenia Gravis pp 42–50Cite as

Expression of the Acetylcholine Receptor α-Subunit Gene is Associated with Paraneoplastic Myasthenia Gravis in Mixed Thymoma

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Abstract

Myasthenia gravis (MG) is an autoimmune disease caused by autoantibodies against the acetylcholine receptor (AChR) at the neuromuscular junction [1]. The muscular AChR has been extensively characterized [2], but the etiology of MG is still obscure. Whether the muscular AChR or another (auto)antigen plays a role during the initiation of MG is unknown [3]. The muscular AChR is a pentameric ion channel composed of four different subunits. The α-subunit contains the acetylcholine binding site and the main epitopes recognized by MG autoantibodies [2]. The human muscle AChR α-subunit exists as two isoforms, P3A- and P3A+ [4]. This is a result of alternative splicing of the P3A exon located between exons three and four. The P3A+ isoform does not bind α-bungarotoxin or monoclonal antibodies against the AChR main immunogenic region and is not integrated into functional AChR [5]. The muscular AChR belongs to the family of nicotinic AChRs as do neuronal AChRs. Since muscular and neuronal AChRs share significant molecular homology [6], neuronal AChRs have been considered as candidate autoantigens able to elicit autoimmunity against the muscular AChR by molecular mimicry [7].

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Author information

Authors and Affiliations

  1. Institute of Pathology, University of Würzburg, Germany

    Stefanie Gutsche, Annette Wilisch, Viola Hoffacker, Anja Schultz, Hans-Konrad Müller-Hermelink & Alexander Marx

  2. Hellenic Pasteur Institute, Athens, Greece

    Socrates Tzartos

  3. Department of Neurology, University of Mainz, Germany

    Wilfried Nix

  4. Department of Neurology, University of Regensburg, Germany

    Berthold Schalke

  5. Department of Neurology, University of Würzburg, Germany

    Christiane Schneider

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  1. Stefanie Gutsche
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Editors and Affiliations

  1. Department of Microbiology and Immunology, University of Texas Medical Branch, Galveston, Texas, USA

    Premkumar Christadoss (Professor) (Professor)

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Gutsche, S. et al. (2000). Expression of the Acetylcholine Receptor α-Subunit Gene is Associated with Paraneoplastic Myasthenia Gravis in Mixed Thymoma. In: Christadoss, P. (eds) Myasthenia Gravis. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-4060-7_5

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  • DOI: https://doi.org/10.1007/978-94-011-4060-7_5

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-010-5787-5

  • Online ISBN: 978-94-011-4060-7

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