The pathogenesis of myotonic dystrophy type 2 includes the sequestration of MBNL proteins by expanded CCUG transcripts, which leads to an abnormal splicing of their target pre-mRNAs. We have found CCUG(exp) RNA transcripts of the ZNF9 gene associated with the formation of ribonuclear foci in human skeletal muscle and some non-muscle tissues present in muscle biopsies and skin excisions from myotonic dystrophy type 2 patients. Using RNA-FISH and immunofluorescence-FISH methods in combination with a high-resolution confocal microscopy, we demonstrate a different frequency of nuclei containing the CCUG(exp) foci, a different expression pattern of MBNL1 protein and a different sequestration of MBNL1 by CCUG(exp) repeats in skeletal muscle, vascular smooth muscle and endothelia, Schwann cells, adipocytes, and ectodermal derivatives. The level of CCUG(exp) transcription in epidermal and hair sheath cells is lower compared with that in other tissues examined. We suppose that non-muscle tissues of myotonic dystrophy type 2 patients might be affected by a similar molecular mechanism as the skeletal muscle, as suggested by our observation of an aberrant insulin receptor splicing in myotonic dystrophy type 2 adipocytes.
- MeSH
- aktiny metabolismus MeSH
- analýza rozptylu MeSH
- antigeny CD34 metabolismus MeSH
- endotel metabolismus patologie MeSH
- konfokální mikroskopie MeSH
- kosterní svaly metabolismus MeSH
- kůže metabolismus patologie MeSH
- lidé MeSH
- myotonické poruchy diagnóza genetika metabolismus patologie MeSH
- neurofilamentové proteiny metabolismus MeSH
- proteiny S100 metabolismus MeSH
- proteiny vázající RNA genetika metabolismus MeSH
- receptor inzulinu genetika MeSH
- repetitivní sekvence nukleových kyselin genetika MeSH
- RNA metabolismus MeSH
- sestřih RNA genetika MeSH
- transport proteinů fyziologie MeSH
- tukové buňky metabolismus patologie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
