Transcriptome Analysis in a Primary Human Muscle Cell Differentiation Model for Myotonic Dystrophy Type 1
| Autor: | Andreas Hehr, Benedikt Schoser, Alastair R.W. Kerr, Peter Meinke, Stefan Hintze, Vanessa Todorow |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Adult
musculoskeletal diseases QH301-705.5 Cellular differentiation RNA Splicing Biology Myotonic dystrophy Catalysis Article Inorganic Chemistry Transcriptome Myoblasts transcriptomics splicing medicine Humans Myotonic Dystrophy Physical and Theoretical Chemistry Biology (General) Molecular Biology Gene myotonic dystrophy type 1 QD1-999 Spectroscopy Cells Cultured human primary muscle cell culture Myogenesis Organic Chemistry Alternative splicing Cell Differentiation General Medicine medicine.disease Phenotype Computer Science Applications Cell biology Chemistry RNA splicing |
| Zdroj: | International Journal of Molecular Sciences, Vol 22, Iss 8607, p 8607 (2021) International Journal of Molecular Sciences Volume 22 Issue 16 |
| ISSN: | 1661-6596 1422-0067 |
| Popis: | Myotonic dystrophy type 1 (DM1) is caused by CTG-repeat expansions leading to a complex pathology with a multisystemic phenotype that primarily affects the muscles and brain. Despite a multitude of information, especially on the alternative splicing of several genes involved in the pathology, information about additional factors contributing to the disease development is still lacking. We performed RNAseq and gene expression analyses on proliferating primary human myoblasts and differentiated myotubes. GO-term analysis indicates that in myoblasts and myotubes, different molecular pathologies are involved in the development of the muscular phenotype. Gene set enrichment for splicing reveals the likelihood of whole, differentiation stage specific, splicing complexes that are misregulated in DM1. These data add complexity to the alternative splicing phenotype and we predict that it will be of high importance for therapeutic interventions to target not only mature muscle, but also satellite cells. |
| Databáze: | OpenAIRE |
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