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Architectural abnormalities in muscle nuclei. Ultrastructural differences between X-linked and autosomal dominant
Anna Fidziańska1, Irena Hausmanowa-Petrusewicz
1Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, 1a, Banacha Str. bld. D, 02-097 Warsaw, Poland.
Objectives:
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.