Reduction of toxic RNAs in myotonic dystrophies type 1 and type 2 by the RNA helicase p68/DDX5

Karlie Jones, Christina Wei, Benedikt Schoser, Giovanni Meola, Nikolai Timchenko, Lubov Timchenko

Research output: Contribution to journalArticlepeer-review


Myotonic dystrophies type 1 (DM1) and type 2 (DM2) are neuromuscular diseases, caused by accumulation of CUG and CCUG RNAs in toxic aggregates. Here we report that the increased stability of the mutant RNAs in both types of DM is caused by deficiency of RNA helicase p68. We have identified p68 by studying CCUG-binding proteins associated with degradation of the mutant CCUG repeats. Protein levels of p68 are reduced in DM1 and DM2 biopsied skeletal muscle. Delivery of p68 in DM1/2 cells causes degradation of the mutant RNAs, whereas delivery of p68 in skeletal muscle of DM1 mouse model reduces skeletal muscle myopathy and atrophy. Our study shows that correction of p68 may reduce toxicity of the mutant RNAs in DM1 and in DM2.

Original languageEnglish
Pages (from-to)8041-8045
Number of pages5
JournalProceedings of the National Academy of Sciences of the United States of America
Issue number26
Publication statusPublished - Jun 30 2015


  • Cug repeats
  • Myotonic dystrophy
  • P68 rna helicase
  • Rna foci

ASJC Scopus subject areas

  • General


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