دورية أكاديمية
A novel mouse model of Duchenne muscular dystrophy carrying a multi-exonic Dmd deletion exhibits progressive muscular dystrophy and early-onset cardiomyopathy
| العنوان: | A novel mouse model of Duchenne muscular dystrophy carrying a multi-exonic Dmd deletion exhibits progressive muscular dystrophy and early-onset cardiomyopathy |
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| المؤلفون: | Tatianna Wai Ying Wong, Abdalla Ahmed, Grace Yang, Eleonora Maino, Sydney Steiman, Elzbieta Hyatt, Parry Chan, Kyle Lindsay, Nicole Wong, Diane Golebiowski, Joel Schneider, Paul Delgado-Olguín, Evgueni A. Ivakine, Ronald D. Cohn |
| المصدر: | Disease Models & Mechanisms, Vol 13, Iss 9 (2020) |
| بيانات النشر: | The Company of Biologists, 2020. |
| سنة النشر: | 2020 |
| المجموعة: | LCC:Medicine LCC:Pathology |
| مصطلحات موضوعية: | dmd, cardiomyopathy, deletion mutation, mouse model, muscular dystrophy, Medicine, Pathology, RB1-214 |
| الوصف: | Duchenne muscular dystrophy (DMD) is a life-threatening neuromuscular disease caused by the lack of dystrophin, resulting in progressive muscle wasting and locomotor dysfunctions. By adulthood, almost all patients also develop cardiomyopathy, which is the primary cause of death in DMD. Although there has been extensive effort in creating animal models to study treatment strategies for DMD, most fail to recapitulate the complete skeletal and cardiac disease manifestations that are presented in affected patients. Here, we generated a mouse model mirroring a patient deletion mutation of exons 52-54 (Dmd Δ52-54). The Dmd Δ52-54 mutation led to the absence of dystrophin, resulting in progressive muscle deterioration with weakened muscle strength. Moreover, Dmd Δ52-54 mice present with early-onset hypertrophic cardiomyopathy, which is absent in current pre-clinical dystrophin-deficient mouse models. Therefore, Dmd Δ52-54 presents itself as an excellent pre-clinical model to evaluate the impact on skeletal and cardiac muscles for both mutation-dependent and -independent approaches. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1754-8403 1754-8411 |
| العلاقة: | http://dmm.biologists.org/content/13/9/dmm045369Test; https://doaj.org/toc/1754-8403Test; https://doaj.org/toc/1754-8411Test |
| DOI: | 10.1242/dmm.045369 |
| الوصول الحر: | https://doaj.org/article/331a1839953f44fc84ba83fead6d8655Test |
| رقم الانضمام: | edsdoj.331a1839953f44fc84ba83fead6d8655 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 17548403 17548411 |
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| DOI: | 10.1242/dmm.045369 |