Elise Mozin, Emmanuelle Massouridès, Virginie Mournetas, Clémence Lièvre, Audrey Bourdon, Dana L Jackson, Jonathan S Packer, Cole Trapnell, Caroline Le Guiner, Oumeya Adjali, Christian Pinset, David L Mack, Jean-Baptiste Dupont
Mutations in the DMD gene lead to Duchenne muscular dystrophy, a severe X-linked neuromuscular disorder which manifests itself as young boys acquire motor functions. DMD is diagnosed after 2 to 4 years, but the absence of dystrophin has an impact before symptoms appear in patients, which poses a serious challenge in the optimization of standards of care. In this report, we investigated the early consequences of dystrophin deficiency during skeletal muscle development. We used single-cell transcriptome profiling to characterize the myogenic trajectory of human pluripotent stem cells and showed that DMD cells bifurcate to an alternative branch when they reach the somite stage...
December 7, 2023: bioRxiv