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Cellular pathology of the human heart in Duchenne muscular dystrophy (DMD): lessons learned from in vitro modeling


Duchenne muscular dystrophy is a genetic disorder where an X-linked mutation in the DMD gene initiates pathogenic development caused by the absence of dystrophin protein. This impacts primarily the evolution of a functional muscle tissue resulting in muscle weakness and later severe disability in young male patients leading to an early death. Patients in the final stage develop dilated cardiomyopathy leading ultimately to cardiac or respiratory failure as the cause of death. This review discusses recent advances in modeling the DMD pathology in vitro. It describes in detail the molecular abnormalities found on the cellular and organoid levels. The in vitro pathology is compared to that found in patients. Likewise, the drawbacks and limitations of current models are discussed.

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This work was supported by the European Regional Development Fund—Project ENOCH (No. CZ.02.1.01/0.0/0.0/16_019/0000868). Martin Pesl was supported by the “Junior researcher 2020” scheme, Medical Faculty, Masaryk University. Barbora Svobodova was supported by funds from the Faculty of Medicine MU to a junior researcher (ROZV/23/LF10/2019). The French Muscular Dystrophy Association (AFM; project 16073, MNM2 2012, and 20225), South Moravian Centre for International Mobility (SoMoPro no. 2SGA2744), and the “Fondation Coeur et Recherche” have financially supported this work as well as the Ministry of Health of the Czech Republic (grant no. NU20-06–00156).

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Correspondence to Albano C. Meli or Vladimir Rotrekl.

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This article is part of the special issue on Recent Progress with hPSCs for Drug Discovery in Pflügers Archiv—European Journal of Physiology

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Svobodova, B., Jelinkova, S., Pesl, M. et al. Cellular pathology of the human heart in Duchenne muscular dystrophy (DMD): lessons learned from in vitro modeling. Pflugers Arch - Eur J Physiol 473, 1099–1115 (2021).

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  • Cardiomyocyte
  • Contraction
  • Duchenne muscular dystrophy
  • In vitro modeling
  • Heart failure