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Myoblasts generated by lentiviral mediated MyoD transduction of myotonic dystrophy type 1 (DM1) fibroblasts can be used for assays of therapeutic molecules

Jan Larsen1, Olof J Pettersson1, Maria Jakobsen1, Rune Thomsen1, Christina B Pedersen2, Jens M Hertz3, Niels Gregersen4, Thomas J Corydon1 and Thomas G Jensen1*

Author Affiliations

1 Department of Biomedicine, Aarhus University, Aarhus, Denmark

2 Department of Molecular Medicine, Aarhus University Hospital, Skejby, Denmark

3 Department of Clinical Genetics, Odense University Hospital, Odense, Denmark

4 Research Unit for Molecular Medicine, Aarhus University Hospital, Skejby, Denmark

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BMC Research Notes 2011, 4:490  doi:10.1186/1756-0500-4-490

Published: 11 November 2011

Abstract

Background

Myotonic dystrophy type 1 (DM1) is the most common muscle dystrophy in adults. The disease is caused by a triplet expansion in the 3'end of the myotonic dystrophy protein kinase (DMPK) gene. In order to develop a human cell model for investigation of possible effects of antisense and RNAi effector molecules we have used lentiviral mediated myoD-forced myogenesis of DM1 patient fibroblasts.

Findings

Transduced fibroblasts show a multinuclear phenotype and express the differentiation marker myogenin. Furthermore, fluorescence in situ hybridization (FISH) analysis revealed a statistical significant increase in the amount of nuclear foci in DM1 patient fibroblasts after myogenesis. Finally, no nuclear foci were found after treatment with oligonucleotides targeting the repeat expansions.

Conclusions

The abundance of nuclear foci in DM1 patient fibroblasts increase following myogenesis, as visualized by FISH analysis. Foci were eradicated after treatment with antisense oligonucleotides. Thus, we propose that the current cell model is suitable for testing of novel treatment modalities.