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Related Experiment Video

Updated: Nov 1, 2025

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy
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Duchenne's muscular dystrophy involves a defective transsulfuration pathway activity.

E Panza1, V Vellecco1, F A Iannotti2

  • 1Department of Pharmacy, School of Medicine and Surgery, University of Naples Federico II, Naples, Italy.

Redox Biology
|June 26, 2021
PubMed
Summary

Duchenne muscular dystrophy (DMD) involves a defective transsulfuration pathway (TSP) and reduced hydrogen sulfide (H2S) production. Supplementing with H2S donors improved muscle function and reduced inflammation in mouse models.

Keywords:
AutophagyDuchenne muscular dystrophyH(2)S donorsInflammationSodium hydrosulfide (NaHS)

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Area of Science:

  • Biochemistry
  • Molecular Biology
  • Genetics

Background:

  • Duchenne muscular dystrophy (DMD) is a severe X-linked genetic disorder characterized by progressive muscle degeneration.
  • Current treatments for DMD do not offer a cure, necessitating research into novel therapeutic strategies.
  • The transsulfuration pathway (TSP) produces hydrogen sulfide (H2S), a molecule with potential roles in cellular protection and inflammation.

Purpose of the Study:

  • To investigate the role of the transsulfuration pathway (TSP) and hydrogen sulfide (H2S) in Duchenne muscular dystrophy (DMD).
  • To assess TSP activity and H2S production in human DMD myoblasts and dystrophic mouse models.
  • To evaluate the therapeutic potential of H2S donors in ameliorating DMD symptoms.

Main Methods:

  • Analysis of gene expression for key TSP enzymes (CSE, CBS, 3-MST, CDO, CSAD, GS, γ-GCS) in human DMD myoblasts.
  • Nuclear Magnetic Resonance (NMR) and quantitative Polymerase Chain Reaction (qPCR) to measure TSP metabolites and gene expression in dystrophic (mdx) mouse skeletal muscles.
  • Assessment of locomotor activity and molecular markers (inflammation, autophagy) in mdx mice treated with sodium hydrosulfide (NaHS).

Main Results:

  • Reduced expression of TSP genes and lower levels of TSP metabolites (methionine, glycine, glutathione, glutamate, taurine) were observed in DMD patient myoblasts and mdx mouse muscles.
  • Treatment with NaHS significantly improved locomotor activity in mdx mice at both early and later disease stages.
  • NaHS treatment led to decreased pro-inflammatory markers and restored autophagy in the skeletal muscles of mdx mice.

Conclusions:

  • The transsulfuration pathway (TSP) activity is impaired in Duchenne muscular dystrophy (DMD).
  • Hydrogen sulfide (H2S) plays a protective role in DMD pathogenesis.
  • H2S donors represent a promising therapeutic approach for managing DMD symptoms.