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Rôle de l'inclusion de l'exon 7 de BIN1 dans la faiblesse musculaire des patients atteints de dystrophie myotonique Preview this item
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Rôle de l'inclusion de l'exon 7 de BIN1 dans la faiblesse musculaire des patients atteints de dystrophie myotonique

Author: Michel NeyNicolas Charlet-BerguerandCécile MartinatMarc BitounJocelyn LaporteAll authors
Publisher: 2017.
Dissertation: Thèse de doctorat : Aspects moléculaires et cellulaires de la biologie : Strasbourg : 2016.
Edition/Format:   Computer file : Document : Thesis/dissertation : French
Summary:
La dystrophie myotonique de type 1 (DM1), est une maladie génétique héréditaire affectant environ 1/8000 personnes. Les patients souffrant de DM1 développent essentiellement des troubles musculaires tels qu'une faiblesse et une atrophie musculaire. La cause de la DM1 est expliquée par la mutation du gène "DMPK". Lors de ma thèse, j'ai pu démontrer que l'épissage de l'ARNm BIN1 était altéré dans le
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Details

Genre/Form: Thèses et écrits académiques
Material Type: Document, Thesis/dissertation, Internet resource
Document Type: Internet Resource, Computer File
All Authors / Contributors: Michel Ney; Nicolas Charlet-Berguerand; Cécile Martinat; Marc Bitoun; Jocelyn Laporte; Denis Furling; Karim Hnia; Université de Strasbourg (2009-....).; École doctorale Sciences de la vie et de la santé (Strasbourg / 2000-....).; Institut de génétique et de biologie moléculaire et cellulaire (Strasbourg).
OCLC Number: 1005078897
Notes: Titre provenant de l'écran-titre.
Description: 1 online resource
Responsibility: Michel Ney ; sous la direction de Nicolas Charlet-Berguerand.

Abstract:

La dystrophie myotonique de type 1 (DM1), est une maladie génétique héréditaire affectant environ 1/8000 personnes. Les patients souffrant de DM1 développent essentiellement des troubles musculaires tels qu'une faiblesse et une atrophie musculaire. La cause de la DM1 est expliquée par la mutation du gène "DMPK". Lors de ma thèse, j'ai pu démontrer que l'épissage de l'ARNm BIN1 était altéré dans le muscle DM1. En effet, l'exon 7 de BIN1, qui est absent du muscle normal, est exprimé de façon aberrante chez les patients DM1. En utilisant un modèle murin, j'ai prouvé que l'expression forcée de l'exon 7 de BIN1 altérait simultanément la structure et la fonction du muscle. Nous avons notamment observés une diminution de la taille des fibres musculaires et une augmentation de la faiblesse musculaire, comparé à des souris normales. Par conséquent, ce travail aidera à la compréhension du mécanisme de la maladie et pourrait expliquer les causes de la faiblesse musculaire et de l'atrophie.

Myotonic dystrophy of type 1 (DM1), is an inherited genetic disease affecting around 1 in 8000 person. Patients suffering from DM1 develop essentially muscle disorders such as muscle weakness, muscle loss and atrophy. The cause of DM1 is explained by the mutation of a gene called “DMPK“.During my thesis, I discovered that the alternative splicing of BIN1 mRNA was altered in the muscle of DM1 patients. Indeed, the BIN1 exon 7, which is normally absent in healthy muscle, is aberrantly expressed in DM1 muscle. By using a mouse model, I found that the forced expression of BIN1 exon 7 was responsible of the alteration of both muscle structure and function. Notably, we found a decrease in muscle fibers area (atrophy) and an increase of muscle weakness, compared to wild-type mice. Therefore, this work will help in the understanding of the disease mechanism and could explain the causes of muscle weakness and atrophy, which have never been elucidated to this date.

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<http:\/\/www.worldcat.org\/oclc\/1005078897<\/a>> # R\u00F4le de l\'inclusion de l\'exon 7 de BIN1 dans la faiblesse musculaire des patients atteints de dystrophie myotonique<\/span>\n\u00A0\u00A0\u00A0\u00A0a \nbgn:Thesis<\/a>, bgn:ComputerFile<\/a>, schema:CreativeWork<\/a>, schema:MediaObject<\/a> ;\u00A0\u00A0\u00A0\nbgn:inSupportOf<\/a> \"Th\u00E8se de doctorat : Aspects mol\u00E9culaires et cellulaires de la biologie : Strasbourg : 2016.<\/span>\" ;\u00A0\u00A0\u00A0\nlibrary:oclcnum<\/a> \"1005078897<\/span>\" ;\u00A0\u00A0\u00A0\nlibrary:placeOfPublication<\/a> <http:\/\/id.loc.gov\/vocabulary\/countries\/fr<\/a>> ;\u00A0\u00A0\u00A0\nschema:about<\/a> <http:\/\/experiment.worldcat.org\/entity\/work\/data\/4525016292#Thing\/bin1<\/a>> ; # BIN1<\/span>\n\u00A0\u00A0\u00A0\nschema:about<\/a> <http:\/\/experiment.worldcat.org\/entity\/work\/data\/4525016292#Topic\/exons<\/a>> ; # Exons<\/span>\n\u00A0\u00A0\u00A0\nschema:about<\/a> <http:\/\/experiment.worldcat.org\/entity\/work\/data\/4525016292#Topic\/therapeutique_experimentale<\/a>> ; 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Les patients souffrant de DM1 d\u00E9veloppent essentiellement des troubles musculaires tels qu\'une faiblesse et une atrophie musculaire. La cause de la DM1 est expliqu\u00E9e par la mutation du g\u00E8ne \"DMPK\". Lors de ma th\u00E8se, j\'ai pu d\u00E9montrer que l\'\u00E9pissage de l\'ARNm BIN1 \u00E9tait alt\u00E9r\u00E9 dans le muscle DM1. En effet, l\'exon 7 de BIN1, qui est absent du muscle normal, est exprim\u00E9 de fa\u00E7on aberrante chez les patients DM1. En utilisant un mod\u00E8le murin, j\'ai prouv\u00E9 que l\'expression forc\u00E9e de l\'exon 7 de BIN1 alt\u00E9rait simultan\u00E9ment la structure et la fonction du muscle. Nous avons notamment observ\u00E9s une diminution de la taille des fibres musculaires et une augmentation de la faiblesse musculaire, compar\u00E9 \u00E0 des souris normales. Par cons\u00E9quent, ce travail aidera \u00E0 la compr\u00E9hension du m\u00E9canisme de la maladie et pourrait expliquer les causes de la faiblesse musculaire et de l\'atrophie.<\/span>\"@fr<\/a> ;\u00A0\u00A0\u00A0\nschema:description<\/a> \"Myotonic dystrophy of type 1 (DM1), is an inherited genetic disease affecting around 1 in 8000 person. Patients suffering from DM1 develop essentially muscle disorders such as muscle weakness, muscle loss and atrophy. The cause of DM1 is explained by the mutation of a gene called \u201CDMPK\u201C.During my thesis, I discovered that the alternative splicing of BIN1 mRNA was altered in the muscle of DM1 patients. Indeed, the BIN1 exon 7, which is normally absent in healthy muscle, is aberrantly expressed in DM1 muscle. By using a mouse model, I found that the forced expression of BIN1 exon 7 was responsible of the alteration of both muscle structure and function. Notably, we found a decrease in muscle fibers area (atrophy) and an increase of muscle weakness, compared to wild-type mice. Therefore, this work will help in the understanding of the disease mechanism and could explain the causes of muscle weakness and atrophy, which have never been elucidated to this date.<\/span>\"@fr<\/a> ;\u00A0\u00A0\u00A0\nschema:exampleOfWork<\/a> <http:\/\/worldcat.org\/entity\/work\/id\/4525016292<\/a>> ;\u00A0\u00A0\u00A0\nschema:genre<\/a> \"Th\u00E8ses et \u00E9crits acad\u00E9miques<\/span>\"@fr<\/a> ;\u00A0\u00A0\u00A0\nschema:inLanguage<\/a> \"fr<\/span>\" ;\u00A0\u00A0\u00A0\nschema:name<\/a> \"R\u00F4le de l\'inclusion de l\'exon 7 de BIN1 dans la faiblesse musculaire des patients atteints de dystrophie myotonique<\/span>\"@fr<\/a> ;\u00A0\u00A0\u00A0\nschema:productID<\/a> \"1005078897<\/span>\" ;\u00A0\u00A0\u00A0\nschema:url<\/a> <http:\/\/www.theses.fr\/2016STRAJ077\/abes<\/a>> ;\u00A0\u00A0\u00A0\nschema:url<\/a> <https:\/\/tel.archives-ouvertes.fr\/tel-02003416<\/a>> ;\u00A0\u00A0\u00A0\nschema:url<\/a> <http:\/\/www.theses.fr\/2016STRAJ077\/document<\/a>> ;\u00A0\u00A0\u00A0\nwdrs:describedby<\/a> <http:\/\/www.worldcat.org\/title\/-\/oclc\/1005078897<\/a>> ;\u00A0\u00A0\u00A0\u00A0.\n\n\n<\/div>\n\n

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<http:\/\/experiment.worldcat.org\/entity\/work\/data\/4525016292#Thing\/bin1<\/a>> # BIN1<\/span>\n\u00A0\u00A0\u00A0\u00A0a \nschema:Thing<\/a> ;\u00A0\u00A0\u00A0\nschema:name<\/a> \"BIN1<\/span>\" ;\u00A0\u00A0\u00A0\u00A0.\n\n\n<\/div>\n
<http:\/\/experiment.worldcat.org\/entity\/work\/data\/4525016292#Thing\/biologie_moleculaire<\/a>> # Biologie mol\u00E9culaire<\/span>\n\u00A0\u00A0\u00A0\u00A0a \nschema:Thing<\/a> ;\u00A0\u00A0\u00A0\nschema:name<\/a> \"Biologie mol\u00E9culaire<\/span>\" ;\u00A0\u00A0\u00A0\u00A0.\n\n\n<\/div>\n
<http:\/\/experiment.worldcat.org\/entity\/work\/data\/4525016292#Thing\/dm1<\/a>> # DM1<\/span>\n\u00A0\u00A0\u00A0\u00A0a \nschema:Thing<\/a> ;\u00A0\u00A0\u00A0\nschema:name<\/a> \"DM1<\/span>\" ;\u00A0\u00A0\u00A0\u00A0.\n\n\n<\/div>\n
<http:\/\/experiment.worldcat.org\/entity\/work\/data\/4525016292#Thing\/dnm2<\/a>> # DNM2<\/span>\n\u00A0\u00A0\u00A0\u00A0a \nschema:Thing<\/a> ;\u00A0\u00A0\u00A0\nschema:name<\/a> \"DNM2<\/span>\" ;\u00A0\u00A0\u00A0\u00A0.\n\n\n<\/div>\n
<http:\/\/experiment.worldcat.org\/entity\/work\/data\/4525016292#Thing\/dystrophie_myotonique_de_type_1<\/a>> # Dystrophie myotonique de type 1<\/span>\n\u00A0\u00A0\u00A0\u00A0a \nschema:Thing<\/a> ;\u00A0\u00A0\u00A0\nschema:name<\/a> \"Dystrophie myotonique de type 1<\/span>\" ;\u00A0\u00A0\u00A0\u00A0.\n\n\n<\/div>\n
<http:\/\/experiment.worldcat.org\/entity\/work\/data\/4525016292#Thing\/faiblesse_musculaire<\/a>> # Faiblesse musculaire<\/span>\n\u00A0\u00A0\u00A0\u00A0a \nschema:Thing<\/a> ;\u00A0\u00A0\u00A0\nschema:name<\/a> \"Faiblesse musculaire<\/span>\" ;\u00A0\u00A0\u00A0\u00A0.\n\n\n<\/div>\n
<http:\/\/experiment.worldcat.org\/entity\/work\/data\/4525016292#Thing\/maladie_rare<\/a>> # Maladie rare<\/span>\n\u00A0\u00A0\u00A0\u00A0a \nschema:Thing<\/a> ;\u00A0\u00A0\u00A0\nschema:name<\/a> \"Maladie rare<\/span>\" ;\u00A0\u00A0\u00A0\u00A0.\n\n\n<\/div>\n
<http:\/\/experiment.worldcat.org\/entity\/work\/data\/4525016292#Topic\/epissage_alternatif<\/a>> # \u00C9pissage alternatif<\/span>\n\u00A0\u00A0\u00A0\u00A0a \nschema:Intangible<\/a> ;\u00A0\u00A0\u00A0\nschema:name<\/a> \"\u00C9pissage alternatif<\/span>\"@fr<\/a> ;\u00A0\u00A0\u00A0\u00A0.\n\n\n<\/div>\n
<http:\/\/experiment.worldcat.org\/entity\/work\/data\/4525016292#Topic\/exons<\/a>> # Exons<\/span>\n\u00A0\u00A0\u00A0\u00A0a \nschema:Intangible<\/a> ;\u00A0\u00A0\u00A0\nschema:name<\/a> \"Exons<\/span>\"@fr<\/a> ;\u00A0\u00A0\u00A0\u00A0.\n\n\n<\/div>\n
<http:\/\/experiment.worldcat.org\/entity\/work\/data\/4525016292#Topic\/genetique_moleculaire<\/a>> # G\u00E9n\u00E9tique mol\u00E9culaire<\/span>\n\u00A0\u00A0\u00A0\u00A0a \nschema:Intangible<\/a> ;\u00A0\u00A0\u00A0\nschema:name<\/a> \"G\u00E9n\u00E9tique mol\u00E9culaire<\/span>\"@fr<\/a> ;\u00A0\u00A0\u00A0\u00A0.\n\n\n<\/div>\n
<http:\/\/experiment.worldcat.org\/entity\/work\/data\/4525016292#Topic\/myotonie_atrophique_aspect_moleculaire<\/a>> # Myotonie atrophique--Aspect mol\u00E9culaire<\/span>\n\u00A0\u00A0\u00A0\u00A0a \nschema:Intangible<\/a> ;\u00A0\u00A0\u00A0\nschema:name<\/a> \"Myotonie atrophique--Aspect mol\u00E9culaire<\/span>\"@fr<\/a> ;\u00A0\u00A0\u00A0\u00A0.\n\n\n<\/div>\n
<http:\/\/experiment.worldcat.org\/entity\/work\/data\/4525016292#Topic\/myotonin_protein_kinase_dissertation_universitaire<\/a>> # Myotonin-protein kinase--Dissertation universitaire<\/span>\n\u00A0\u00A0\u00A0\u00A0a \nschema:Intangible<\/a> ;\u00A0\u00A0\u00A0\nschema:name<\/a> \"Myotonin-protein kinase--Dissertation universitaire<\/span>\"@fr<\/a> ;\u00A0\u00A0\u00A0\u00A0.\n\n\n<\/div>\n
<http:\/\/experiment.worldcat.org\/entity\/work\/data\/4525016292#Topic\/therapeutique_experimentale<\/a>> # Th\u00E9rapeutique exp\u00E9rimentale<\/span>\n\u00A0\u00A0\u00A0\u00A0a \nschema:Intangible<\/a> ;\u00A0\u00A0\u00A0\nschema:name<\/a> \"Th\u00E9rapeutique exp\u00E9rimentale<\/span>\"@fr<\/a> ;\u00A0\u00A0\u00A0\u00A0.\n\n\n<\/div>\n
<http:\/\/id.loc.gov\/vocabulary\/countries\/fr<\/a>>\u00A0\u00A0\u00A0\u00A0a \nschema:Place<\/a> ;\u00A0\u00A0\u00A0\ndcterms:identifier<\/a> \"fr<\/span>\" ;\u00A0\u00A0\u00A0\u00A0.\n\n\n<\/div>\n
<http:\/\/www.theses.fr\/2016STRAJ077\/document<\/a>>\u00A0\u00A0\u00A0\nrdfs:comment<\/a> \"Acc\u00E8s au texte int\u00E9gral<\/span>\" ;\u00A0\u00A0\u00A0\u00A0.\n\n\n<\/div>\n
<http:\/\/www.worldcat.org\/title\/-\/oclc\/1005078897<\/a>>\u00A0\u00A0\u00A0\u00A0a \ngenont:InformationResource<\/a>, genont:ContentTypeGenericResource<\/a> ;\u00A0\u00A0\u00A0\nschema:about<\/a> <http:\/\/www.worldcat.org\/oclc\/1005078897<\/a>> ; # R\u00F4le de l\'inclusion de l\'exon 7 de BIN1 dans la faiblesse musculaire des patients atteints de dystrophie myotonique<\/span>\n\u00A0\u00A0\u00A0\nschema:dateModified<\/a> \"2020-04-19<\/span>\" ;\u00A0\u00A0\u00A0\nvoid:inDataset<\/a> <http:\/\/purl.oclc.org\/dataset\/WorldCat<\/a>> ;\u00A0\u00A0\u00A0\u00A0.\n\n\n<\/div>\n\n

Content-negotiable representations<\/p>\n