Nuclear architecture remodelling in envelopathies.
We performed ultrastructural studies on nuclear abnormalities in muscle from 8 patients with X-linked and autosomal dominant form of Emery-Dreifuss muscular dystrophy (EDMD) and one case with progeroid syndrome. The diagnosis was based on clinical and molecular findings. We detected various degrees of nuclear architecture remodelling ranging from misshapen shape, nuclear disintegration, nuclear chromatin condensation and decondensation, focal chromatin loss to complete nuclear fragmentation. The most interesting finding was the appearance of tubulofilamentous inclusions inside the nuclear matrix of X-linked EDMD patients. All these nuclear aberrations are considered to be structural indicators of nuclear dysfunction evoked by envelope protein deficiency.
Fidziańska
Anna
A
Neuromuscular Unit, Medical Centre, Polish Academy of Science, Pawiñski 5, 02-106 Warsaw, Poland. neurmyol@cmdik.pan.pl
Glinka
Zofia
Z
D000293:Adolescent; D000328:Adult; D002467:Cell Nucleus / Q000648:ultrastructure*; D002648:Child; D006801:Humans; D034904:Lamin Type A / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D046529:Microscopy, Electron, Transmission; D018482:Muscle, Skeletal / Q000648:ultrastructure*; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics / Q000473:pathology*; D009687:Nuclear Proteins / Q000235:genetics
C494847:LMNA protein, human; D034904:Lamin Type A; D008565:Membrane Proteins; D009687:Nuclear Proteins; C092710:emerin