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Carlo Serra, Kathryn R. Wagner
Published April 6, 2020
Citation Information: J Clin Invest. 2020;130(5):2186-2188. https://doi.org/10.1172/JCI136133.
Citation Information: J Clin Invest. 2020;130(5):2186-2188. https://doi.org/10.1172/JCI136133.
Abstract
Facioscapulohumeral muscular dystrophy (FSHD) results from expression of the full-length double homeobox 4 (DUX4-FL) retrogene in skeletal muscle. However, even in cases of severe FSHD the presence of DUX4 is barely detectable. In this issue of the JCI, Bosnakovski et al. used an inducible, muscle-specific human DUX4 to reproduce the low-level, sporadic DUX4 expression of human FSHD muscle as well the myopathology seen in human FSHD disease. Notably, dysregulated fibroadipogenic progenitors accumulated in affected muscles, thus providing a mechanism for the replacement of muscle by fibrosis and fat.
Authors
Carlo Serra, Kathryn R. Wagner
Citation information
Citations to this article (3)
| Title and authors | Publication | Year |
|---|---|---|
|
Single-cell spatial transcriptomics reveals a dystrophic trajectory following a developmental bifurcation of myoblast cell fates in facioscapulohumeral muscular dystrophy
Chen L, Kong X, Johnston KG, Mortazavi A, Holmes TC, Tan Z, Yokomori K, Xu X |
Genome research | 2024 |
|
Role of fibro-adipogenic progenitor cells in muscle atrophy and musculoskeletal diseases
E Parker, MW Hamrick |
Current Opinion in Pharmacology | 2021 |
|
Membrane Repair Deficit in Facioscapulohumeral Muscular Dystrophy
AJ Bittel, SC Sreetama, DC Bittel, A Horn, JS Novak, T Yokota, A Zhang, R Maruyama, KR Lim, JK Jaiswal, YW Chen |
International journal of molecular sciences | 2020 |
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