Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy

Luca Cartegni, Marina Raffaele Di Barletta, Rita Barresi, Stefane Squarzoni, Patrizia Sabatelli, Nadir Maraldi, Marina Mora, Claudia Di Blasi, Ferdinando Cornelio, Luciano Merlini, Antonello Villa, Fabio Cobianchi, Daniela Toniolo

Research output: Contribution to journalArticlepeer-review

126 Scopus citations


Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked inherited disease characterized by early contracture of the elbows, Achilles tendons and post-cervical muscles, slow progressive muscle wasting and weakness and cardiomyopathy presenting with arrhythmia and atrial paralysis: heart block can eventually lead to sudden death. The EDMD gene encodes a novel ubiquitous protein, emerin, which decorates the nuclear rim of many cell types. Amino acid sequence homology and cellular localization suggested that emerin is a member of the nuclear lamina-associated protein family. These findings did not explain the role of emerin nor account for the skeletal muscle- and heart-specific clinical manifestations associated with the disorder. Now we report that emerin localizes to the inner nuclear membrane, via its hydrophobic C-terminal domain, but that in heart and cultured cardiomyocytes it is also associated with the intercalated discs. We propose a general role for emerin in membrane anchorage to the cytoskeleton. In the nuclear envelope emerin plays a ubiquitous and dispensable role in association of the nuclear membrane with the lamina. In heart its specific localization to desmosomes and fasciae adherentes could account for the characteristic conduction defects described in patients.

Original languageEnglish (US)
Pages (from-to)2257-2264
Number of pages8
JournalHuman molecular genetics
Issue number13
StatePublished - Dec 1997
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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