Muscular diseases


Despite the identification of numerous genes responsible for genetic muscle pathologies, the physiopathological mechanisms are not yet clear, which may explain the current therapeutic difficulties. Pluripotent human stem cells have allowed us to dynamically follow the ontogeny of skeletal muscles. In the absence of dystrophin, the protein responsible for Duchenne muscular dystrophy (DMD), early alterations are observed by multiomics approaches at the somite stage (mitochondria, cell junctions, metabolism). These data force us to reconsider the functions of dystrophin which are not limited to membrane stabilization in the muscle fiber. In addition, muscle cells derived from DMD hiPSCs are suitable tools for high throughput screening that open up new therapeutic avenues.



Equipe :


Christian Pinset : Research Director (CECS)
Judith Lorant :
Emmanuelle Massourides : Associate engineer (CECS)



Publications :


Data Publication  :

In 2019,

  • Publication of RNAseq data (ArrayExpress database (159) at EMBL-EBI;
    accession number E-MTAB-8321 (
  • Publication of miRNA-seq data (ArrayExpress database (159) at EMBL-EBI;
    accession number E-MTAB-8293 (
  • Publication of proteomics data (PRIDE Archive database (167) at EMBL-EBI,
    accession number PXD015355 (

In 2015,

  • Publication of a new exon for the dystrophin gene (DMD) on GenBank (n°KT072086).


Former members :




  • Stephane Sebille, Poitiers, France : Calcium study of DMD phenotype in myoblasts derived from hiPSCs. Skills of optogenetic, electrophysiology…
  • Krzysztof Zabłocki, Warsaw Poland : Calcium and mitochondria studies in DMD during muscular differentiation from hiPSCs.
  • Carolyn Carr, Oxford England : Study cardiomyocytes function and metabolism in DMD, in 2D and 3D from hiPSCs. Specific focus on fatty acid and glucose metabolisms.
  • Manuela Zaccolo, Oxford, England ; Study of cyclic AMP and GMP signalling in DMD hiPSC-derived cardiac myocytes using targeted FRET-based reporters.
  • Isabelle Richard, Genethon, France ; CRISPR and metabolism study in DMD.
  • Fabien Dorange, Genethon, France ; Development of a potency assay for AAV vector harboring the microdystrophin gene.
  • Fred Relaix, Créteil, France : Defining PAX3 direct target genes and its downstream gene regulatory network using pluripotent stem cells as a model
  • David Mack, Seattle, USA ; Study of Duchenne physiopathology during the muscular differentiation from hiPSCs.
  • Darek Gorecki, Portsmouth England : Pathogenesis and treatment of Duchenne muscular dystrophy, role of the dystrophin complex in the brain, purinoceptors, gene therapy using non-viral vectors