Cellular pathology of the human heart in Duchenne muscular dystrophy (DMD): lessons learned from in vitro modeling
Summary
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.
| Authors | Svobodova B, Jelinkova S, Pesl M, Beckerová D, Lacampagne A, Meli AC, Rotrekl V |
|---|---|
| Journal | Pflugers Archiv : European journal of physiology |
| Publication Date | 2021 Jul;473(7):1099-1115 |
| PubMed | 34169350 |
| DOI | 10.1007/s00424-021-02589-0 |