Voluntary Running Sustains the Correction of Inflammation-Related Gene Expression Conferred by AAV Gene Therapy in Mdx Mice

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Publicado en:bioRxiv (Jan 22, 2025)
Autor principal: Yuan, Claire
Otros Autores: Hamm, Shelby E, Mack, David L, Dupont, Jean-Baptiste, Grange, Robert W
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Cold Spring Harbor Laboratory Press
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Acceso en línea:Citation/Abstract
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Resumen:Duchenne Muscular Dystrophy is a fatal disease characterized by persistent skeletal muscle degeneration, inflammation, and fibrosis. Gene therapy using an adeno-associated virus derived vector and a microdystrophin transgene is currently under investigation in patients but the impact of physical activity on long-term therapeutic outcome remains poorly understood. Recently, we reported 21-weeks of voluntary wheel running complemented the positive endurance and muscle function outcomes of gene therapy in mdx mice. In the present study, we performed a transcriptomic analysis of the gene expression changes associated with functional recovery in the diaphragm. RNA-Sequencing and bioinformatic analysis revealed 2881 dysregulated genes in untreated and unexercised mdx mice including inflammatory and fibrotic signaling pathways frequently affected in Duchenne Muscular Dystrophy patients. Among the dysregulated genes, 774 were rescued towards WT after adeno-associated virus microdystrophin injection. Importantly, 93% of the rescued genes were maintained by voluntary running, which indicates that physical exercise has no significant impact on the outcome of gene therapy in the mdx diaphragm. Our study provides vital information that could help guide DMD patient follow-up protocols after treatment with gene therapy.Competing Interest StatementResearch funding for R.W.G. was provided by Solid Biosciences, Inc.; R.W.G. is a consultant for Solve FSHD, Kinea Bio, Inc., Ultragenyx Pharmaceutical, Inc., through his company RWG PHD LLC, David Mack is a founder and member of the SAB for Kinea Bio, Inc.
ISSN:2692-8205
DOI:10.1101/2025.01.17.633557
Fuente:Biological Science Database