Circulation research, 2005-11, Vol.97 (11), p.1152-1155
2005
Volltextzugriff (PDF)
Details
- Autor(en) / Beteiligte
- Titel
- Nuclear RNA Foci in the Heart in Myotonic Dystrophy
- Ist Teil von
- Circulation research, 2005-11, Vol.97 (11), p.1152-1155
- Ort / Verlag
- Hagerstown, MD: American Heart Association, Inc
- Erscheinungsjahr
- 2005
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0009-7330eISSN: 1524-4571DOI: 10.1161/01.RES.0000193598.89753.e3Titel-ID: cdi_proquest_miscellaneous_19378567
- Format
- –
- Schlagworte
- Alternative Splicing, Biological and medical sciences, Cell Nucleus - metabolism, Diseases of striated muscles. Neuromuscular diseases, Fundamental and applied biological sciences. Psychology, Humans, Medical sciences, Middle Aged, Muscle Proteins - genetics, Myocytes, Cardiac - metabolism, Myotonic Dystrophy - genetics, Myotonin-Protein Kinase, NAV1.5 Voltage-Gated Sodium Channel, Neurology, Protein-Serine-Threonine Kinases - genetics, RNA, Nuclear - metabolism, RNA-Binding Proteins - analysis, RNA-Binding Proteins - metabolism, Sodium Channels - genetics, Trinucleotide Repeat Expansion, Vertebrates: cardiovascular system