Go to JCI Insight
  • About
  • Editors
  • Consulting Editors
  • For authors
  • Publication ethics
  • Publication alerts by email
  • Advertising
  • Job board
  • Contact
  • Clinical Research and Public Health
  • Current issue
  • Past issues
  • By specialty
    • COVID-19
    • Cardiology
    • Gastroenterology
    • Immunology
    • Metabolism
    • Nephrology
    • Neuroscience
    • Oncology
    • Pulmonology
    • Vascular biology
    • All ...
  • Videos
    • Conversations with Giants in Medicine
    • Video Abstracts
  • Reviews
    • View all reviews ...
    • Pancreatic Cancer (Jul 2025)
    • Complement Biology and Therapeutics (May 2025)
    • Evolving insights into MASLD and MASH pathogenesis and treatment (Apr 2025)
    • Microbiome in Health and Disease (Feb 2025)
    • Substance Use Disorders (Oct 2024)
    • Clonal Hematopoiesis (Oct 2024)
    • Sex Differences in Medicine (Sep 2024)
    • View all review series ...
  • Viewpoint
  • Collections
    • In-Press Preview
    • Clinical Research and Public Health
    • Research Letters
    • Letters to the Editor
    • Editorials
    • Commentaries
    • Editor's notes
    • Reviews
    • Viewpoints
    • 100th anniversary
    • Top read articles

  • Current issue
  • Past issues
  • Specialties
  • Reviews
  • Review series
  • Conversations with Giants in Medicine
  • Video Abstracts
  • In-Press Preview
  • Clinical Research and Public Health
  • Research Letters
  • Letters to the Editor
  • Editorials
  • Commentaries
  • Editor's notes
  • Reviews
  • Viewpoints
  • 100th anniversary
  • Top read articles
  • About
  • Editors
  • Consulting Editors
  • For authors
  • Publication ethics
  • Publication alerts by email
  • Advertising
  • Job board
  • Contact
It’s not all about muscle: fibroadipogenic progenitors contribute to facioscapulohumeral muscular dystrophy
Carlo Serra, Kathryn R. Wagner
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.
View: Text | PDF
Commentary Article has an altmetric score of 2

It’s not all about muscle: fibroadipogenic progenitors contribute to facioscapulohumeral muscular dystrophy

  • Text
  • PDF
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

×

Figure 1

FAPs’ potential contribution to FSHD myopathy.

Options: View larger image (or click on image) Download as PowerPoint
FAPs’ potential contribution to FSHD myopathy.
Upon acute muscle injury,...
Upon acute muscle injury, normal muscle (center) shows necrosis of the damaged fibers and then the formation of new fibers by the fusion of the resident MuSCs (left). In this context, FAPs proliferate to assist this process and subsequently return to the basal level. Conversely, the continuous cycles of muscle necrosis and regeneration, as in FSHD, result in the excessive deposition of FAPs, a change that helps to explain the massive accumulation of fibrosis and intramuscular fat in the dystrophic muscle (right).

Copyright © 2025 American Society for Clinical Investigation
ISSN: 0021-9738 (print), 1558-8238 (online)

Sign up for email alerts

Posted by 4 X users
On 1 Facebook pages
23 readers on Mendeley
See more details