Myotonic dystrophy type 1 (DM1), the commonest type of muscular dystrophy in adults, is caused by expansion of CTG repeats in the 3′UTR of the DMPK gene. Sequestration of the alternative splicing regulator MBNL1 (muscleblind-like protein 1) by CUG expansions in DMPK transcripts is associated with some of the pathogenic features of DM1. Llamusi et al. now identify two RNA-binding proteins, BSF and TBPH, as modifiers of CTG toxicity in a Drosophila model of DM1. They report that these proteins and Muscleblind (the fly orthologue of MBNL1) are present in the sarcomeres of normal flight muscle, and that CTG expansion disrupts this expression pattern. Importantly, TBPH silencing improves the dystrophic muscle phenotype. These results provide new clues about DM1 and identify TBPH as a potential therapeutic target. Page 184

Written by Jane Bradbury. © 2012. Published by The Company of Biologists Ltd.
2012
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