title: Does aberrant architecture of nuclear LINC complex stop muscle cell development?
abstract: The linker of nucleoskeleton and cytoskeleton (LINC) complex is a structure that spans the entire nuclear envelope (NE) and integrates the nuclear interior with the cytoskeleton. Lamin A/C together with nesprins that mainly reside along the inner nuclear membrane (INM) and outer nuclear membrane (ONM) are core components of the LINC complex. Integrity of this specific nuclear structure is critical for muscle cell maturation and function. In the present study, we analyzed the ultrastructure of the LINC complex observed in two neonates with severe hypotonia and respiratory distress. Disruption of the LINC complex manifests in a wide separation of the ONM from the INM; the loss of perinuclear space (PNS) and delayed muscle cell maturation were predominating findings. This nuclear phenomenon has never been reported and provides further support for the appearance of a neonatal form of laminopathy.
authors.forename: Anna
authors.initials: A
authors.lastname: Fidzianska
authors.forename: Zofia
authors.initials: Z
authors.lastname: Glinka
authors.forename: Przemko
authors.initials: P
authors.lastname: Kwinta
authors.forename: Tomasz
authors.initials: T
authors.lastname: Tomasik
authors.forename: Jacek J
authors.initials: JJ
authors.lastname: Pietrzyk
mesh_terms: D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins; D046529:Microscopy, Electron, Transmission; D046912:Multiprotein Complexes; D018482:Muscle, Skeletal / Q000002:abnormalities* / Q000196:embryology* / Q000648:ultrastructure; D009685:Nuclear Envelope / Q000648:ultrastructure*; D009687:Nuclear Proteins
chemical_list: D008565:Membrane Proteins; D046912:Multiprotein Complexes; D009687:Nuclear Proteins