دورية أكاديمية
Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy
| العنوان: | Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy |
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| المؤلفون: | Mary Chesshyre, Deborah Ridout, Yasumasa Hashimoto, Yoko Ookubo, Silvia Torelli, Kate Maresh, Valeria Ricotti, Lianne Abbott, Vandana Ayyar Gupta, Marion Main, Giulia Ferrari, Anna Kowala, Yung‐Yao Lin, Francesco Saverio Tedesco, Mariacristina Scoto, Giovanni Baranello, Adnan Manzur, Yoshitsugu Aoki, Francesco Muntoni |
| المصدر: | Journal of Cachexia, Sarcopenia and Muscle, Vol 13, Iss 2, Pp 1360-1372 (2022) |
| بيانات النشر: | Wiley, 2022. |
| سنة النشر: | 2022 |
| المجموعة: | LCC:Diseases of the musculoskeletal system LCC:Human anatomy |
| مصطلحات موضوعية: | Duchenne muscular dystrophy, Isoform, Motor function, Diseases of the musculoskeletal system, RC925-935, Human anatomy, QM1-695 |
| الوصف: | Abstract Background Duchenne muscular dystrophy (DMD) is caused by DMD mutations leading to dystrophin loss. Full‐length Dp427 is the primary dystrophin isoform expressed in muscle and is also expressed in the central nervous system (CNS). Two shorter isoforms, Dp140 and Dp71, are highly expressed in the CNS. While a role for Dp140 and Dp71 on DMD CNS comorbidities is well known, relationships between mutations expected to disrupt Dp140 and Dp71 and motor outcomes are not. Methods Functional outcome data from 387 DMD boys aged 4–15 years were subdivided by DMD mutation expected effects on dystrophin isoform expression; Group 1 (Dp427 absent, Dp140/Dp71 present, n = 201); Group 2 (Dp427/Dp140 absent, Dp71 present, n = 152); and Group 3 (Dp427/Dp140/Dp71 absent, n = 34). Relationships between isoform group and North Star ambulatory assessment (NSAA) scores, 10 m walk/run velocities and rise time velocities were explored using regression analysis. Western blot analysis was used to study Dp427, Dp140 and Dp71 production in myogenic cells (control and DMD human), control skeletal muscle, DMD skeletal muscle from the three isoform groups and cerebral cortex from mice (wild‐type and DMD models). Grip strength and rotarod running test were studied in wild‐type mice and DMD mouse models. DMD mouse models were mdx (Dp427 absent, Dp140/Dp71 present), mdx52 (Dp427/Dp140 absent, Dp71 present) and DMD‐null (lacking all isoforms). Results In DMD boys, mean NSAA scores at 5 years of age were 6.1 points lower in Group 3 than Group 1 (P |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2190-6009 2190-5991 |
| العلاقة: | https://doaj.org/toc/2190-5991Test; https://doaj.org/toc/2190-6009Test |
| DOI: | 10.1002/jcsm.12914 |
| الوصول الحر: | https://doaj.org/article/f0e9fb8a39b84e67b80fc0751fc0cab9Test |
| رقم الانضمام: | edsdoj.f0e9fb8a39b84e67b80fc0751fc0cab9 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 21906009 21905991 |
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| DOI: | 10.1002/jcsm.12914 |