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

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Udgivet i:bioRxiv (Jan 22, 2025)
Hovedforfatter: Yuan, Claire
Andre forfattere: 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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LEADER 00000nab a2200000uu 4500
001 3158241598
003 UK-CbPIL
022 |a 2692-8205 
024 7 |a 10.1101/2025.01.17.633557  |2 doi 
035 |a 3158241598 
045 0 |b d20250122 
100 1 |a Yuan, Claire 
245 1 |a Voluntary Running Sustains the Correction of Inflammation-Related Gene Expression Conferred by AAV Gene Therapy in Mdx Mice 
260 |b Cold Spring Harbor Laboratory Press  |c Jan 22, 2025 
513 |a Working Paper 
520 3 |a 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. 
653 |a Gene therapy 
653 |a Gene expression 
653 |a Physical activity 
653 |a Recovery of function 
653 |a Skeletal muscle 
653 |a Muscular dystrophy 
653 |a Transcriptomics 
653 |a Transgenes 
653 |a Fibrosis 
653 |a Diaphragm 
653 |a Wheel running 
653 |a Duchenne's muscular dystrophy 
653 |a Inflammation 
700 1 |a Hamm, Shelby E 
700 1 |a Mack, David L 
700 1 |a Dupont, Jean-Baptiste 
700 1 |a Grange, Robert W 
773 0 |t bioRxiv  |g (Jan 22, 2025) 
786 0 |d ProQuest  |t Biological Science Database 
856 4 1 |3 Citation/Abstract  |u https://www.proquest.com/docview/3158241598/abstract/embedded/7BTGNMKEMPT1V9Z2?source=fedsrch 
856 4 0 |3 Full text outside of ProQuest  |u https://www.biorxiv.org/content/10.1101/2025.01.17.633557v1