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Published on: May 16, 2017
Nuclear RNA foci in the heart in myotonic dystrophy
Ami Mankodi1, Xiaoyan Lin, Burns C Blaxall
1Department of Neurology, University of Rochester Medical Center, Rochester, NY 14642, USA.
Abstract:
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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