scholarly journals Training program-induced skeletal muscle adaptations in two men with myotonic dystrophy type 1

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Marie-Pier Roussel ◽  
Marika Morin ◽  
Mélina Girardin ◽  
Anne-Marie Fortin ◽  
Mario Leone ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Training Program ◽  
Myotonic Dystrophy ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Muscle Adaptations ◽  
Skeletal Muscle Adaptations

Strength-Training Induces Skeletal Muscle Adaptations in Patients with Myotonic Dystrophy Type I

2016 ◽  
Vol 48 ◽  
pp. 641 ◽  
Author(s):  
Marie-Pier Roussel ◽  
Marika Morin ◽  
Émile Petitclerc ◽  
Anne-Marie Fortin ◽  
Cynthia Gagnon ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Strength Training ◽  
Myotonic Dystrophy ◽  
Type I ◽  
Myotonic Dystrophy Type ◽  
Muscle Adaptations ◽  
Skeletal Muscle Adaptations

scholarly journals Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies

2014 ◽  
Vol 24 (3) ◽  
pp. 227-240 ◽  
Author(s):  
Linda L. Bachinski ◽  
Keith A. Baggerly ◽  
Valerie L. Neubauer ◽  
Tamara J. Nixon ◽  
Olayinka Raheem ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Myotonic Dystrophy ◽  
Muscular Dystrophies ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type

scholarly journals Inhibition of Postn Rescues Myogenesis Defects in Myotonic Dystrophy Type 1 Myoblast Model

2021 ◽  
Vol 9 ◽  
Author(s):  
Xiaopeng Shen ◽  
Zhongxian Liu ◽  
Chunguang Wang ◽  
Feng Xu ◽  
Jingyi Zhang ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Myotonic Dystrophy ◽  
Cell Model ◽  
Neutralizing Antibody ◽  
Underlying Mechanism ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Ctg Repeats ◽  
Myoblast Cells

Myotonic dystrophy type 1 (DM1) is an inherited neuromuscular disease caused by expanded CTG repeats in the 3′ untranslated region (3′UTR) of the DMPK gene. The myogenesis process is defective in DM1, which is closely associated with progressive muscle weakness and wasting. Despite many proposed explanations for the myogenesis defects in DM1, the underlying mechanism and the involvement of the extracellular microenvironment remained unknown. Here, we constructed a DM1 myoblast cell model and reproduced the myogenesis defects. By RNA sequencing (RNA-seq), we discovered that periostin (Postn) was the most significantly upregulated gene in DM1 myogenesis compared with normal controls. This difference in Postn was confirmed by real-time quantitative PCR (RT-qPCR) and western blotting. Moreover, Postn was found to be significantly upregulated in skeletal muscle and myoblasts of DM1 patients. Next, we knocked down Postn using a short hairpin RNA (shRNA) in DM1 myoblast cells and found that the myogenesis defects in the DM1 group were successfully rescued, as evidenced by increases in the myotube area, the fusion index, and the expression of myogenesis regulatory genes. Similarly, Postn knockdown in normal myoblast cells enhanced myogenesis. As POSTN is a secreted protein, we treated the DM1 myoblast cells with a POSTN-neutralizing antibody and found that DM1 myogenesis defects were successfully rescued by POSTN neutralization. We also tested the myogenic ability of myoblasts in the skeletal muscle injury mouse model and found that Postn knockdown improved the myogenic ability of DM1 myoblasts. The activity of the TGF-β/Smad3 pathway was upregulated during DM1 myogenesis but repressed when inhibiting Postn with a Postn shRNA or a POSTN-neutralizing antibody, which suggested that the TGF-β/Smad3 pathway might mediate the function of Postn in DM1 myogenesis. These results suggest that Postn is a potential therapeutical target for the treatment of myogenesis defects in DM1.

scholarly journals Overexpression of CUGBP1 in Skeletal Muscle from Adult Classic Myotonic Dystrophy Type 1 but Not from Myotonic Dystrophy Type 2

PLoS ONE ◽  
2013 ◽  
Vol 8 (12) ◽  
pp. e83777 ◽  
Author(s):  
Rosanna Cardani ◽  
Enrico Bugiardini ◽  
Laura V. Renna ◽  
Giulia Rossi ◽  
Graziano Colombo ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Myotonic Dystrophy ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Myotonic Dystrophy Type 2

Effects and Acceptability of an Individualized Home-Based 10-Week Training Program in Adults with Myotonic Dystrophy Type 1

2021 ◽  
Vol 8 (1) ◽  
pp. 137-149
Author(s):  
Isabelle Lessard ◽  
Sébastien Gaboury ◽  
Cynthia Gagnon ◽  
Kévin Bouchard ◽  
Kévin Chapron ◽  
...  
Keyword(s):  
Training Program ◽  
Myotonic Dystrophy ◽  
Outcome Measures ◽  
Functional Mobility ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Walk Test ◽  
Adult Form ◽  
Home Based

Background: Muscle weakness is a cardinal sign of myotonic dystrophy type 1, causing important functional mobility limitations and increasing the risk of falling. As a non-pharmacological, accessible and safe treatment for this population, strength training is an intervention of choice. Objective: To document the effects and acceptability of an individualized semi-supervised home-based exercise program on functional mobility, balance and lower limb strength, and to determine if an assistive training device has a significant impact on outcomes. Methods: This study used a pre-post test design and men with the adult form of DM1 were randomly assigned to the control or device group. The training program was performed three times a week for 10 weeks and included three exercises (sit-to-stand, squat, and alternated lunges). Outcome measures included maximal isometric muscle strength, 10-Meter Walk Test, Mini-BESTest, 30-Second Chair Stand Test and 6-minute walk test. Results: No outcome measures showed a significant difference, except for the strength of the knee flexors muscle group between the two assessments. All participants improved beyond the standard error of measurement in at least two outcome measures. The program and the device were well accepted and all participants reported many perceived improvements at the end of the program. Conclusions: Our results provide encouraging data on the effects and acceptability of a home-based training program for men with the adult form of DM1. These programs would reduce the financial burden on the health system while improving the clinical services offered to this population.

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