Blastocyst injection of wild type embryonic stem cells induces global corrections in Mdx mice

Elizabeth Stillwell, Joseph Vitale, Qingshi Zhao, Amanda Beck, Joel Schneider, Farah Khadim, Genie Elson, Aneela Altaf, Ghassan Yehia, Jia Hui Dong, Jing Liu, Willie Mark, Mantu Bhaumik, Robert Grange, Diego Fraidenraich

Research output: Contribution to journalArticlepeer-review

25 Scopus citations


Duchenne muscular dystrophy (DMD) is an incurable neuromuscular degenerative disease, caused by a mutation in the dystrophin gene. Mdx mice recapitulate DMD features. Here we show that injection of wild-type (WT) embryonic stem cells (ESCs) into mdx blastocysts produces mice with improved pathology and function. A small fraction of WT ESCs incorporates into the mdx mouse nonuniformly to upregulate protein levels of dystrophin in the skeletal muscle. The chimeric muscle shows reduced regeneration and restores dystrobrevin, a dystrophin-related protein, in areas with high and with low dystrophin content. WT ESC injection increases the amount of fat in the chimeras to reach WT levels. ESC injection without dystrophin does not prevent the appearance of phenotypes in the skeletal muscle or in the fat. Thus, dystrophin supplied by the ESCs reverses disease in mdx mice globally in a dose-dependent manner.

Original languageEnglish (US)
Article numbere4759
JournalPloS one
Issue number3
StatePublished - Mar 11 2009

All Science Journal Classification (ASJC) codes

  • General


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