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Musculoskeletal disease

Muscular dystrophy

Dystrophia myotonica protein kinase (DMPK)

In vitro and mouse studies identified a DMPK CUG repeat-binding inhibitor that could help treat myotonic dystrophy type 1 (DM1). DM1 is caused by CUG repeats in the DMPK mRNA that bind and sequester the splicing regulator muscleblind (MBNL1). In HeLa cells expressing CUG repeat-containing DMPK, an inhibitor that bound the repeats and blocked binding to MBNL1 decreased formation of ribonuclear foci and partially corrected splicing of two genes compared with no treatment. In a transgenic Drosophila model of DM1, the inhibitor suppressed disease phenotypes. Next steps could include testing the inhibitor in additional DM1 models and improving its potency.

SciBX 7(19); doi:10.1038/scibx.2014.563
Published online May 15, 2014

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Wong, C.-H. et al. J. Am. Chem. Soc.; published online April 4, 2014;
Contact: Steven C. Zimmerman, University of Illinois at Urbana-Champaign, Urbana Ill.
Contact: Paul J. Hergenrother, same affiliation as above