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Related Experiment Videos

RNA-mediated neuromuscular disorders.

Laura P W Ranum1, Thomas A Cooper

  • 1Institute of Human Genetics and Department of Genetics, Cell Biology & Development, University of Minnesota, Minneapolis, Minnesota 55455, USA. ranum001@umn.edu

Annual Review of Neuroscience
|June 17, 2006
PubMed
Summary
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Myotonic dystrophy type 1 and 2 are caused by RNA gain-of-function from expanded repeat mutations. This mechanism is implicated in other neurological disorders like fragile X tremor ataxia syndrome.

Area of Science:

  • Genetics
  • Molecular Biology
  • Neurology

Background:

  • Myotonic dystrophy type 1 (DM1) results from CTG repeat expansion in the DMPK gene's 3' UTR.
  • Myotonic dystrophy type 2 (DM2) involves CCTG repeat expansion in an intron.

Purpose of the Study:

  • To review RNA pathogenesis in DM1 and DM2.
  • To explore the RNA gain-of-function mechanism in microsatellite expansion disorders.

Main Methods:

  • Characterization of RNA-binding proteins interacting with expanded CUG repeats.
  • Review of genetic and molecular mechanisms in DM1 and DM2.

Main Results:

  • Expanded CTG and CCTG repeats lead to disease via an RNA gain-of-function mechanism.
  • This mechanism is relevant to DM1 and DM2 pathogenesis.

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Conclusions:

  • Microsatellite expansion mutations can cause disease through RNA gain-of-function.
  • This mechanism is potentially involved in fragile X tremor ataxia syndrome, spinocerebellar ataxias, and Huntington's disease-like 2.