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.
|Christian Pinset : Research Director (CECS)|
|Judith Lorant :|
|Emmanuelle Massourides : Associate engineer (CECS)|
- Mournetas V, et al (2021). Myogenesis modelled by human pluripotent stem cells: a multi‐omic study of Duchenne myopathy early onset.
Journal of Cachexia, Sarcopenia and Muscle.
doi : 10.1002/jcsm.12665
GUI : https://muscle-dmd.omics.ovh/
- miR-379 links glucocorticoid treatment with mitochondrial response in Duchenne muscular dystrophy. M. Sanson et al.
Scientific reports 2020
- Genome editing in primary cells and in vivo using viral-derived Nanoblades loaded with Cas9-sgRNA ribonucleoproteins. Philippe E. Mangeot et al.
Nat. Comm 2019
- Comparability of automated human induced pluripotent stem cell culture: a pilot study. Peter R. T. Archibald et al.
Bioprocess and Biosystems Engineering 2016
- Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells. Massouridès et al. Skeletal Muscle 2015 5:40
Data Publication :
- Publication of RNAseq data (ArrayExpress database (159) at EMBL-EBI;
accession number E-MTAB-8321 (https://www.ebi.ac.uk/arrayexpress/experiments/E-MTAB-8321))
- Publication of miRNA-seq data (ArrayExpress database (159) at EMBL-EBI;
accession number E-MTAB-8293 (https://www.ebi.ac.uk/arrayexpress/experiments/E-MTAB-8293).
- Publication of proteomics data (PRIDE Archive database (167) at EMBL-EBI,
accession number PXD015355 (https://www.ebi.ac.uk/pride/archive/projects/PXD015355)).
- Publication of a new exon for the dystrophin gene (DMD) on GenBank (n°KT072086).
Former members :
- Jean-Baptiste Dupont
- Virginie Mournetas ( https://www.virginie-mournetas.fr/ )
- Jérôme Polentes
- Anne-Laure Egesipe
- Johana Tournois
- Anne-Laure Jaskowiak