Myotonic Dystrophies 1 and 2: Complex Diseases with Complex Mechanisms

@inproceedings{Schoser2010MyotonicD1,
  title={Myotonic Dystrophies 1 and 2: Complex Diseases with Complex Mechanisms},
  author={Benedikt Schoser and Lubov T. Timchenko},
  booktitle={Current genomics},
  year={2010}
}
Two multi-system disorders, Myotonic Dystrophies type 1 and type 2 (DM1 and DM2), are complex neuromuscular diseases caused by an accumulation of expanded, non-coding RNAs, containing repetitive CUG and CCUG elements. Similarities of these mutations suggest similar mechanisms for both diseases. The expanded CUGn and CCUGn RNAs mainly target two RNA binding proteins, MBNL1 and CUGBP1, elevating levels of CUGBP1 and reducing levels of MBNL1. These alterations change processing of RNAs that are… CONTINUE READING

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