It's not all about muscle: Fibroadipogenic progenitors contribute to facioscapulohumeral muscular dystrophy

Carlo Serra, Kathryn R. Wagner

Research output: Contribution to journalReview articlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)2186-2188
Number of pages3
JournalJournal of Clinical Investigation
Volume130
Issue number5
DOIs
StatePublished - May 1 2020

ASJC Scopus subject areas

  • Medicine(all)

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