Proteomics

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Systemic deletion of DMD exon 51 rescues clinically severe Duchenne muscular dystrophy in a pig model lacking DMD exon 52

ABSTRACT: Duchenne muscular dystrophy (DMD) is a fatal X-linked disease caused by mutations in the dystrophin (DMD) gene, leading to the complete absence of DMD and progressive degeneration of skeletal and heart muscles. Expression of an internally shortened dystrophin in DMD subjects (DMDΔ52) can be achieved by skipping DMD exon 51 to reframe the transcript. To predict the best possible outcome of this therapeutic strategy, we generated transgenic pigs lacking DMD exon 51 and 52, additionally representing a new model for Becker muscular dystrophy (BMD). To inspect the proteome alterations caused by the different dystrophin mutations in an unbiased and comprehensive manner, we performed a label-free liquid chromatography-tandem mass spectrometry analysis (LC-MS/MS) of myocardial and skeletal muscle samples from wild-type (WT), DMDΔ52 and DMDΔ51-52 pigs.

INSTRUMENT(S): Q Exactive HF-X

ORGANISM(S): Sus Scrofa Domesticus (domestic Pig)

TISSUE(S): Skeletal Muscle, Myocardium

SUBMITTER: Bachuki Shashikadze  

LAB HEAD: Thomas Fröhlich

PROVIDER: PXD039533 | Pride | 2023-07-11

REPOSITORIES: Pride

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Systemic deletion of <i>DMD</i> exon 51 rescues clinically severe Duchenne muscular dystrophy in a pig model lacking <i>DMD</i> exon 52.

Stirm Michael M   Shashikadze Bachuki B   Blutke Andreas A   Kemter Elisabeth E   Lange Andreas A   Stöckl Jan B JB   Jaudas Florian F   Laane Laeticia L   Kurome Mayuko M   Keßler Barbara B   Zakhartchenko Valeri V   Bähr Andrea A   Klymiuk Nikolai N   Nagashima Hiroshi H   Walter Maggie C MC   Wurst Wolfgang W   Kupatt Christian C   Fröhlich Thomas T   Wolf Eckhard E  

Proceedings of the National Academy of Sciences of the United States of America 20230710 29

Duchenne muscular dystrophy (DMD) is a fatal X-linked disease caused by mutations in the <i>DMD</i> gene, leading to complete absence of dystrophin and progressive degeneration of skeletal musculature and myocardium. In DMD patients and in a corresponding pig model with a deletion of <i>DMD</i> exon 52 (<i>DMD</i>Δ52), expression of an internally shortened dystrophin can be achieved by skipping of <i>DMD</i> exon 51 to reframe the transcript. To predict the best possible outcome of this strategy  ...[more]

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