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.

To our deepest regret Prof. Anna Fidzianska passed away on January 16, 2015.

Author Details

Authors

• Anna Fidzianska¹†
• Zofia Glinka¹
• Przemko Kwinta²
• Tomasz Tomasik²
• Jacek J. Pietrzyk²

Departments

• ¹ Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw,
• ² Department of Pediatrics, Jagiellonian University Medical College, Cracow, Poland

Address

Zofia Glinka, Msc
Neuromuscular Unit
Mossakowski Medical Research Centre
Polish Academy of Sciences
02-106 Warsaw, Poland
Email: [email protected]

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