Dystrophin deficiency impairs cell junction formation during embryonic myogenesis from pluripotent stem cells.

ABSTRACT: Mutations in the DMD gene lead to Duchenne muscular dystrophy (DMD), a severe neuromuscular disorder affecting young boys as they acquire motor functions. DMD is typically diagnosed at 2-4 years of age, but the absence of dystrophin has negative impacts on skeletal muscles before overt symptoms appear in patients, which poses a serious challenge in current standards of care. Here, we investigated the 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. Dystrophin deficiency was linked to marked dysregulations of cell junction proteins involved in the cell

SUBMITTER: Mozin E 

PROVIDER: S-EPMC11261405 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature