Duchenne's muscular dystrophy involves a defective transsulfuration pathway activity.

ABSTRACT: Duchenne muscular dystrophy (DMD) is the most frequent X chromosome-linked disease caused by mutations in the gene encoding for dystrophin, leading to progressive and unstoppable degeneration of skeletal muscle tissues. Despite recent advances in the understanding of the molecular processes involved in the pathogenesis of DMD, there is still no cure. In this study, we aim at investigating the potential involvement of the transsulfuration pathway (TSP), and its by-end product namely hydrogen sulfide (H₂S), in primary human myoblasts isolated from DMD donors and skeletal muscles of dystrophic (mdx) mice. In myoblasts of DMD donors, we demonstrate that the expression of key genes regulating the H₂S production and TSP activity, including cystathionine γ lyase (CSE), cysta

SUBMITTER: Panza E 

PROVIDER: S-EPMC8246642 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature