Figure 2.

Therapeutic effects of small molecules on myotonic dystrophy type 1 (DM1) pathogenesis. DM1 is characterized by the presence of RNA foci which are aggregations of the mutant CUG^exp transcript with muscleblind-like (MBNL)1 and other proteins. CUGBP1 is not sequestered by foci, but it is upregulated. The imbalance of these two alternative splicing proteins causes the aberrant alternative splicing of many pre-mRNAs. Treatment of DM1 cells and model organisms with small molecules that target the DNA and/or affect proteins involved in the DM1 pathogenesis can lead to beneficial effects, such as inhibition of transcription of the mutant transcript, or its degradation, release of MBNL1 protein from RNA foci, downregulation of CUGBP1 protein, and ultimately the correction of the aberrant splicing.