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Lookup NU author(s): Dr Valeria Di Leo, Dr Conor LawlessORCiD, Professor Grainne Gorman, Dr Oliver RussellORCiD, Dr Helen TuppenORCiD, Dr Amy VincentORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
Background:Myotonic dystrophy type 1 (DM1) is a dominant autosomal neuromuscular disorder caused by the inheritance of a CTG triplet repeat expansion in the Dystrophia Myotonica Protein Kinase (DMPK) gene. At present, no cure currently exists for DM1 disease.Objective:This study investigates the effects of 12-week resistance exercise training on mitochondrial oxidative phosphorylation in skeletal muscle in a cohort of DM1 patients (n = 11, men) in comparison to control muscle with normal oxidative phosphorylation.Methods:Immunofluorescence was used to assess protein levels of key respiratory chain subunits of complex I (CI) and complex IV (CIV), and markers of mitochondrial mass and cell membrane in individual myofibres sampled from muscle biopsies. Using control’s skeletal muscle fibers population, we classified each patient’s fibers as having normal, low or high levels of CI and CIV and compared the proportions of fibers before and after exercise training. The significance of changes observed between pre- and post-exercise within patients was estimated using a permutation test.Results:At baseline, DM1 patients present with significantly decreased mitochondrial mass, and isolated or combined CI and CIV deficiency. After resistance exercise training, in most patients a significant increase in mitochondrial mass was observed, and all patients showed a significant increase in CI and/or CIV protein levels. Moreover, improvements in mitochondrial mass were correlated with the one-repetition maximum strength evaluation.Conclusions:Remarkably, 12-week resistance exercise training is sufficient to partially rescue mitochondrial dysfunction in DM1 patients, suggesting that the response to exercise is in part be due to changes in mitochondria.
Author(s): Di Leo V, Lawless C, Roussel MP, Gomes TB, Gorman GS, Russell OM, Tuppen HAL, Duchesne E, Vincent AE
Publication type: Article
Publication status: Published
Journal: Journal of Neuromuscular Diseases
Year: 2023
Volume: 10
Issue: 7
Pages: 1111-1126
Online publication date: 07/11/2023
Acceptance date: 08/08/2023
Date deposited: 06/03/2026
ISSN (print): 2214-3599
ISSN (electronic): 2214-3602
Publisher: IOS Press
URL: https://doi.org/10.3233/JND-230099
DOI: 10.3233/JND-230099
Data Access Statement: The data supporting the findings of this study are openly available in VDLNCL/DM1-mitochondria at https://github.com/VDLNCL/DM1-mitochondria.
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