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  Identification of an agrin mutation that causes congenital myasthenia and affects synapse function

Huzé, C., Bauché, S., Richard, P., Chevessier, F., Goillot, E., Gaudon, K., et al. (2009). Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. The American Journal of Human Genetics, 85(2), 155-167. doi:10.1016/j.ajhg.2009.06.015.

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Alternativer Titel : Identification of an agrin mutation that causes congenital myasthenia and affects synapse function

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 Urheber:
Huzé, Carolin, Autor
Bauché, Stephanie, Autor
Richard, Pascale, Autor
Chevessier, Frédéric1, 2, Autor           
Goillot, Evelyne, Autor
Gaudon, Karen, Autor
Ammar, Asma Ben, Autor
Chaboud, Anne, Autor
Grosjean, Isabelle, Autor
Lecuyer, Heba-Aude, Autor
Bernard, Véronique, Autor
Rouche, Andrée, Autor
Alexandri, Nektaria, Autor
Kuntzer, Thierry, Autor
Fardeau, Michel, Autor
Fournier, Emmanuel, Autor
Brancaccio, Andrea, Autor
Rüegg, Markus A., Autor
Koenig, Janine, Autor
Eymard, Bruno, Autor
Schaeffer, Laurent, AutorHantaï, Daniel, Autor mehr..
Affiliations:
1Department of Molecular Neurobiology, Max Planck Institute for Medical Research, Max Planck Society, ou_1497704              
2Department of Cell Physiology, Max Planck Institute for Medical Research, Max Planck Society, ou_1497701              

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 Zusammenfassung: We report the case of a congenital myasthenic syndrome due to a mutation in AGRN, the gene encoding agrin, an extracellular matrix molecule released by the nerve and critical for formation of the neuromuscular junction. Gene analysis identified a homozygous missense mutation, c.5125G>C, leading to the p.Gly1709Arg variant. The muscle-biopsy specimen showed a major disorganization of the neuromuscular junction, including changes in the nerve-terminal cytoskeleton and fragmentation of the synaptic gutters. Experiments performed in nonmuscle cells or in cultured C2C12 myotubes and using recombinant mini-agrin for the mutated and the wild-type forms showed that the mutated form did not impair the activation of MuSK or change the total number of induced acetylcholine receptor aggregates. A solid-phase assay using the dystrophin glycoprotein complex showed that the mutation did not affect the binding of agrin to alpha-dystroglycan. Injection of wild-type or mutated agrin into rat soleus muscle induced the formation of nonsynaptic acetylcholine receptor clusters, but the mutant protein specifically destabilized the endogenous neuromuscular junctions. Importantly, the changes observed in rat muscle injected with mutant agrin recapitulated the pre- and post-synaptic modifications observed in the patient. These results indicate that the mutation does not interfere with the ability of agrin to induce postsynaptic structures but that it dramatically perturbs the maintenance of the neuromuscular junction.

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Sprache(n): eng - English
 Datum: 2009-06-232009-03-262009-06-232009-07-232009-08-14
 Publikationsstatus: Erschienen
 Seiten: 13
 Ort, Verlag, Ausgabe: -
 Inhaltsverzeichnis: -
 Art der Begutachtung: Expertenbegutachtung
 Identifikatoren: eDoc: 664636
DOI: 10.1016/j.ajhg.2009.06.015
URI: http://www.ncbi.nlm.nih.gov/pubmed/19631309
Anderer: 7538
 Art des Abschluß: -

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Titel: The American Journal of Human Genetics
  Andere : Am. J. Hum. Genet.
Genre der Quelle: Zeitschrift
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Ort, Verlag, Ausgabe: American Society of Human Genetics
Seiten: - Band / Heft: 85 (2) Artikelnummer: - Start- / Endseite: 155 - 167 Identifikator: ISSN: 0002-9297
CoNE: https://pure.mpg.de/cone/journals/resource/954925377893_1