ArticleMolecular therapy : the journal of the American Society of Gene Therapy2011
RNA interference improves myopathic phenotypes in mice over-expressing FSHD region gene 1 (FRG1).
Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 45 citations in OpenAlex.
- Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches.Disease models & mechanisms · 2024Review
- Human miRNA miR-675 inhibits DUX4 expression and may be exploited as a potential treatment for Facioscapulohumeral muscular dystrophy.Nature communications · 2021Article
- Is Upregulation of Sarcolipin Beneficial or Detrimental to Muscle Function?Frontiers in physiology · 2021Article
- Current Genetic Survey and Potential Gene-Targeting Therapeutics for Neuromuscular Diseases.International journal of molecular sciences · 2020Review
- Multi-Omics Identifies Circulating miRNA and Protein Biomarkers for Facioscapulohumeral Dystrophy.Journal of personalized medicine · 2020Article
- Transgenic mice expressing tunable levels of DUX4 develop characteristic facioscapulohumeral muscular dystrophy-like pathophysiology ranging in severity.Skeletal muscle · 2020Article
- A Pediatric Review of Facioscapulohumeral Muscular Dystrophy.Journal of pediatric neurology : JPN · 2018Article
- Molecular Therapies for Muscular Dystrophies.Current treatment options in neurology · 2018Review
- Pre-clinical Safety and Off-Target Studies to Support Translation of AAV-Mediated RNAi Therapy for FSHD.Molecular therapy. Methods & clinical development · 2018Article
- A cre-inducible DUX4 transgenic mouse model for investigating facioscapulohumeral muscular dystrophy.PloS one · 2018Article
- Increased FSHD region gene1 expression reducesBioscience reports · 2017Article
- Current status and future prospect of FSHD region gene 1.Journal of biosciences · 2017Review
- Future of rAAV Gene Therapy: Platform for RNAi, Gene Editing, and Beyond.Human gene therapy · 2017Article
- Targeting mRNA for the treatment of facioscapulohumeral muscular dystrophy.Intractable & rare diseases research · 2016Review
- A cross sectional study of two independent cohorts identifies serum biomarkers for facioscapulohumeral muscular dystrophy (FSHD).Neuromuscular disorders : NMD · 2016Article
- Therapeutic impact of systemic AAV-mediated RNA interference in a mouse model of myotonic dystrophy.Human molecular genetics · 2015Article
- RNAi-mediated Gene Silencing of Mutant Myotilin Improves Myopathy in LGMD1A Mice.Molecular therapy. Nucleic acids · 2014Article
- Morpholino treatment improves muscle function and pathology of Pitx1 transgenic mice.Molecular therapy : the journal of the American Society of Gene Therapy · 2014Article
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- The role of genetics in the establishment and maintenance of the epigenome.Cellular and molecular life sciences : CMLS · 2013Review
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
Abstract
Muscular dystrophies, and other diseases of muscle, arise from recessive and dominant gene mutations. Gene replacement strategies may be beneficial for the former, while gene silencing approaches may provide treatment for the latter. In the last two decades, muscle-directed gene therapies were primarily focused on treating recessive disorders. This disparity at least partly arose because feasible mechanisms to silence dominant disease genes lagged behind gene replacement strategies. With the discovery of RNA interference (RNAi) and its subsequent development as a promising new gene silencing tool, the landscape has changed. In this study, our objective was to demonstrate proof-of-principle for RNAi therapy of a dominant myopathy in vivo. We tested the potential of adeno-associated viral (AAV)-delivered therapeutic microRNAs, targeting the human Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1), to correct myopathic features in mice expressing toxic levels of human FRG1 (FRG1(-high) mice). We found that FRG1 gene silencing improved muscle mass, strength, and histopathological abnormalities associated with muscular dystrophy in FRG1(-high) mice, thereby demonstrating therapeutic promise for treatment of dominantly inherited myopathies using RNAi. This approach potentially applies to as many as 29 different gene mutations responsible for myopathies inherited as dominant disorders.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.