Architectural abnormalities in muscle nuclei. Ultrastructural differences between X-linked and autosomal dominant forms of EDMD.
OBJECTIVE
The aim of our study was to compare the ultrastructure of myonuclei in both forms of Emery-Dreifuss dystrophy (EDMD)-X-linked and dominantly autosomally transmitted. The muscle biopsies were taken from rectus femoris in four X-linked EDMD cases and three ADEDMD cases.


METHODS
The biopsies were evaluated using immunocytochemical staining to establish emerin or A/C lamins deficiency. The muscle ultrastructure, especially that of nuclei, was analysed to find out whether there are differences between the two forms of EDMD.


RESULTS
In both forms of EDMD, there was an aberrant nuclear architecture. In the X-linked form, the breakdown of fragile nuclear membrane and presence of nucleoplasm extrusion were a distinct feature. In the AD from, there was chromatin reorganization and loss of nucleoplasm volume.
Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, 1a, Banacha Str. bld. D, 02-097 Warsaw, Poland.
Anna
A
Fidziańska
Irena
I
Hausmanowa-Petrusewicz
D000328:Adult; D002467:Cell Nucleus / Q000648:ultrastructure*; D002648:Child; D002843:Chromatin / Q000473:pathology / Q000648:ultrastructure; D041321:Chromosomes, Human, X; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D007473:Ion Channels / Q000648:ultrastructure; D034882:Lamins / Q000378:metabolism; D008297:Male; D008565:Membrane Proteins / Q000172:deficiency / Q000378:metabolism; D018482:Muscle, Skeletal / Q000473:pathology / Q000648:ultrastructure*; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000145:classification / Q000235:genetics / Q000473:pathology*; D009154:Mutation; D009685:Nuclear Envelope / Q000473:pathology / Q000648:ultrastructure; D009687:Nuclear Proteins; D013946:Thymopoietins / Q000172:deficiency / Q000378:metabolism
D002843:Chromatin; D007473:Ion Channels; D034882:Lamins; D008565:Membrane Proteins; D009687:Nuclear Proteins; D013946:Thymopoietins; C092710:emerin