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Curr Opin Genet Dev. 2017 Jun;44:135-140. doi: 10.1016/j.gde.2017.03.007. Epub 2017 Apr 1.

Myotonic dystrophy: approach to therapy.

Author information

1
Department of Neurology, University of Rochester, Rochester 14642, NY, United States. Electronic address: charles_thornton@urmc.rochester.edu.
2
Department of Molecular Genetics & Microbiology, Center for NeuroGenetics, University of Florida, Gainesville, FL, United States.
3
Department of Neurology, University of Rochester, Rochester 14642, NY, United States.

Abstract

Myotonic dystrophy (DM) is a dominantly-inherited genetic disorder affecting skeletal muscle, heart, brain, and other organs. DM type 1 is caused by expansion of a CTG triplet repeat in DMPK, whereas DM type 2 is caused by expansion of a CCTG tetramer repeat in CNBP. In both cases the DM mutations lead to expression of dominant-acting RNAs. Studies of RNA toxicity have now revealed novel mechanisms and new therapeutic targets. Preclinical data have suggested that RNA dominance is responsive to therapeutic intervention and that DM therapy can be approached at several different levels. Here we review recent efforts to alleviate RNA toxicity in DM.

PMID:
28376341
PMCID:
PMC5447481
DOI:
10.1016/j.gde.2017.03.007
[Indexed for MEDLINE]
Free PMC Article

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