miRNA expression in control and FSHD fetal human muscle biopsies

PLoS One. 2015 Feb 18;10(2):e0116853. doi: 10.1371/journal.pone.0116853. eCollection 2015.


Background: Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disorder and is one of the most common forms of muscular dystrophy. We have recently shown that some hallmarks of FSHD are already expressed in fetal FSHD biopsies, thus opening a new field of investigation for mechanisms leading to FSHD. As microRNAs (miRNAs) play an important role in myogenesis and muscle disorders, in this study we compared miRNAs expression levels during normal and FSHD muscle development.

Methods: Muscle biopsies were obtained from quadriceps of both healthy control and FSHD1 fetuses with ages ranging from 14 to 33 weeks of development. miRNA expression profiles were analyzed using TaqMan Human MicroRNA Arrays.

Results: During human skeletal muscle development, in control muscle biopsies we observed changes for 4 miRNAs potentially involved in secondary muscle fiber formation and 5 miRNAs potentially involved in fiber maturation. When we compared the miRNA profiles obtained from control and FSHD biopsies, we did not observe any differences in the muscle specific miRNAs. However, we identified 8 miRNAs exclusively expressed in FSHD1 samples (miR-330, miR-331-5p, miR-34a, miR-380-3p, miR-516b, miR-582-5p, miR-517* and miR-625) which could represent new biomarkers for this disease. Their putative targets are mainly involved in muscle development and morphogenesis. Interestingly, these FSHD1 specific miRNAs do not target the genes previously described to be involved in FSHD.

Conclusions: This work provides new candidate mechanisms potentially involved in the onset of FSHD pathology. Whether these FSHD specific miRNAs cause deregulations during fetal development, or protect against the appearance of the FSHD phenotype until the second decade of life still needs to be investigated.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biopsy
  • Case-Control Studies
  • Computational Biology
  • Female
  • Fetus / embryology
  • Fetus / metabolism*
  • Fetus / pathology
  • Humans
  • Male
  • MicroRNAs / genetics*
  • Muscle, Skeletal / embryology*
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology*
  • Muscular Dystrophy, Facioscapulohumeral / embryology
  • Muscular Dystrophy, Facioscapulohumeral / genetics*
  • Muscular Dystrophy, Facioscapulohumeral / pathology*
  • Transcriptome*


  • MicroRNAs

Grants and funding

Research reported in this publication was supported by FSH Society Delta Railroad Construction Company Fellowship Grant to JD (FSHS-DRRC-2008; https://www.fshsociety.org), Association Française contre les Myopathies to JD and FM (AFM-Téléthon, France; www.afm-telethon.fr), the Agence Nationale de la Recherche to SR, FM and JD(FSHDecrypt, ANR-09-GENO-038 and FSHDecipher, ANR-13-BSV1-0004; www.agence-nationale-recherche.fr) and CNPq-Inserm French-Brazilian International Laboratory of Cell Therapy and Immunotherapy to DMP, MRA, WS, VM and GBB (490272/2008-8; www.inserm.fr). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.