Myogenesis modelled by human pluripotent stem cells: a multi-omic study of Duchenne myopathy early onset

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Background

Duchenne Muscular Dystrophy (DMD) is a rare disease characterized by early muscular damages. The earlier the disease is diagnosed the earlier patients can access standards of care, genetic counselling and clinical trials.

Results

Christian Pinset, Virginie Mournetas et al. have modelized the skeletal myogenesis process with human tissue-derived myoblasts and human induced pluripotent stem cells (hiPSCs) from Duchenne Muscular Dystrophy patients. Based on multi-omics analysis strategy combining transcriptomic, miRnome and proteomic exploration, the scientists identified significant transcriptomic dysregulation starting at the somite stage, an early developmental stage.

Conclusion

These discoveries open new perspectives for early diagnosis of the DMD disease and also potential new targets for drugs development.