Nuclear RNA foci in the heart in myotonic dystrophy.
basic_science · Level V
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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.
Medical subject headings
- Cell Nucleus
- Myocytes, Cardiac
- Myotonic Dystrophy
- RNA, Nuclear
- RNA-Binding Proteins
- Trinucleotide Repeat Expansion