Journal
CIRCULATION RESEARCH
Volume 97, Issue 11, Pages 1152-1155Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1161/01.RES.0000193598.89753.e3
Keywords
myotonic dystrophy; CUG repeats; RNA foci; muscleblind; alternative splicing
Funding
- NIAMS NIH HHS [AR48143, AR49077] Funding Source: Medline
- NINDS NIH HHS [NS48843] Funding Source: Medline
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The disease mechanism underlying myotonic dystrophy type 1 (DM1) pathogenesis in skeletal muscle may involve sequestration of RNA binding proteins in nuclear foci of expanded poly(CUG) RNA. Here we report evidence for a parallel mechanism in the heart. Accumulation of expanded poly(CUG) RNA in nuclear foci is associated with sequestration of muscleblind proteins and abnormal regulation of alternative splicing in DM1 cardiac muscle. A toxic effect of RNA with an expanded repeat may contribute to cardiac disease in DM1.
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