Inhibiting EZH2 complements steroid effects in Duchenne muscular dystrophy.

ABSTRACT: Duchenne muscular dystrophy (DMD) is a devastating X-linked disorder caused by dystrophin gene mutations. Despite recent advances in understanding the disease etiology and applying emerging treatment methodologies, glucocorticoid derivatives remain the only general therapeutic option that can slow disease development. However, the precise molecular mechanism of glucocorticoid action remains unclear, and there is still need for additional remedies to complement the treatment. Here, using single-nucleus RNA sequencing and spatial transcriptome analyses of human and mouse muscles, we investigated pathogenic features in patients with DMD and palliative effects of glucocorticoids. Our approach further illuminated the importance of proliferating satellite cells and revealed increased activity of

SUBMITTER: Jeon EY 

PROVIDER: S-EPMC11908487 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature