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. 2005 Nov 25;97(11):1152-5.
doi: 10.1161/01.RES.0000193598.89753.e3. Epub 2005 Oct 27.

Nuclear RNA foci in the heart in myotonic dystrophy

Ami Mankodi  1 , Xiaoyan Lin, Burns C Blaxall, Maurice S Swanson, Charles A Thornton
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Free article

Nuclear RNA foci in the heart in myotonic dystrophy

Ami Mankodi et al. Circ Res. .
Free article

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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