Nuclear RNA foci in the heart in myotonic dystrophy
A Mankodi, X Lin, BC Blaxall, MS Swanson… - Circulation …, 2005 - Am Heart Assoc
A Mankodi, X Lin, BC Blaxall, MS Swanson, CA Thornton
Circulation research, 2005•Am Heart AssocThe 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 …
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 …
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.
Am Heart Assoc