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

Abstract : 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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Michel Ney. Rôle de l'inclusion de l'exon 7 de BIN1 dans la faiblesse musculaire des patients atteints de dystrophie myotonique. Génomique, Transcriptomique et Protéomique [q-bio.GN]. Université de Strasbourg, 2016. Français. ⟨NNT : 2016STRAJ077⟩. ⟨tel-02003416⟩

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