Modeling Myotonic Dystrophy Type 2 Using <i>Drosophila melanogaster</i>
Myotonic dystrophy 2 (DM2) is a genetic multi-systemic disease primarily affecting skeletal muscle. It is caused by CCTGn expansion in intron 1 of the <i>CNBP</i> gene, which encodes a zinc finger protein. DM2 disease has been successfully modeled in <i>Drosophila melanogaster,<...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-09-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/24/18/14182 |
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| author | Marta Marzullo Sonia Coni Assia De Simone Gianluca Canettieri Laura Ciapponi |
| author_facet | Marta Marzullo Sonia Coni Assia De Simone Gianluca Canettieri Laura Ciapponi |
| author_sort | Marta Marzullo |
| collection | DOAJ |
| description | Myotonic dystrophy 2 (DM2) is a genetic multi-systemic disease primarily affecting skeletal muscle. It is caused by CCTGn expansion in intron 1 of the <i>CNBP</i> gene, which encodes a zinc finger protein. DM2 disease has been successfully modeled in <i>Drosophila melanogaster,</i> allowing the identification and validation of new pathogenic mechanisms and potential therapeutic strategies. Here, we describe the principal tools used in <i>Drosophila</i> to study and dissect molecular pathways related to muscular dystrophies and summarize the main findings in DM2 pathogenesis based on DM2 <i>Drosophila</i> models. We also illustrate how <i>Drosophila</i> may be successfully used to generate a tractable animal model to identify novel genes able to affect and/or modify the pathogenic pathway and to discover new potential drugs. |
| first_indexed | 2024-03-10T22:39:09Z |
| format | Article |
| id | doaj.art-5fcadc57fcb24f7b9166805e00dec719 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-10T22:39:09Z |
| publishDate | 2023-09-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-5fcadc57fcb24f7b9166805e00dec7192023-11-19T11:09:02ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672023-09-0124181418210.3390/ijms241814182Modeling Myotonic Dystrophy Type 2 Using <i>Drosophila melanogaster</i>Marta Marzullo0Sonia Coni1Assia De Simone2Gianluca Canettieri3Laura Ciapponi4Department of Biology and Biotechnologies “C. Darwin”, Sapienza University of Rome, 00185 Rome, ItalyDepartment of Molecular Medicine, Sapienza University of Rome, 00161 Rome, ItalyDepartment of Biology and Biotechnologies “C. Darwin”, Sapienza University of Rome, 00185 Rome, ItalyDepartment of Molecular Medicine, Sapienza University of Rome, 00161 Rome, ItalyDepartment of Biology and Biotechnologies “C. Darwin”, Sapienza University of Rome, 00185 Rome, ItalyMyotonic dystrophy 2 (DM2) is a genetic multi-systemic disease primarily affecting skeletal muscle. It is caused by CCTGn expansion in intron 1 of the <i>CNBP</i> gene, which encodes a zinc finger protein. DM2 disease has been successfully modeled in <i>Drosophila melanogaster,</i> allowing the identification and validation of new pathogenic mechanisms and potential therapeutic strategies. Here, we describe the principal tools used in <i>Drosophila</i> to study and dissect molecular pathways related to muscular dystrophies and summarize the main findings in DM2 pathogenesis based on DM2 <i>Drosophila</i> models. We also illustrate how <i>Drosophila</i> may be successfully used to generate a tractable animal model to identify novel genes able to affect and/or modify the pathogenic pathway and to discover new potential drugs.https://www.mdpi.com/1422-0067/24/18/14182<i>Drosophila melanogaster</i>myotonic dystrophy type 2DM2CNBP |
| spellingShingle | Marta Marzullo Sonia Coni Assia De Simone Gianluca Canettieri Laura Ciapponi Modeling Myotonic Dystrophy Type 2 Using <i>Drosophila melanogaster</i> International Journal of Molecular Sciences <i>Drosophila melanogaster</i> myotonic dystrophy type 2 DM2 CNBP |
| title | Modeling Myotonic Dystrophy Type 2 Using <i>Drosophila melanogaster</i> |
| title_full | Modeling Myotonic Dystrophy Type 2 Using <i>Drosophila melanogaster</i> |
| title_fullStr | Modeling Myotonic Dystrophy Type 2 Using <i>Drosophila melanogaster</i> |
| title_full_unstemmed | Modeling Myotonic Dystrophy Type 2 Using <i>Drosophila melanogaster</i> |
| title_short | Modeling Myotonic Dystrophy Type 2 Using <i>Drosophila melanogaster</i> |
| title_sort | modeling myotonic dystrophy type 2 using i drosophila melanogaster i |
| topic | <i>Drosophila melanogaster</i> myotonic dystrophy type 2 DM2 CNBP |
| url | https://www.mdpi.com/1422-0067/24/18/14182 |
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