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

Hum Mol Genet. 1997 Dec;6(13):2257-64. doi: 10.1093/hmg/6.13.2257.

Abstract

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 geneencodes 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Arrhythmias, Cardiac / etiology
  • Cell Adhesion
  • Cytoskeletal Proteins / analysis
  • Cytoskeleton / metabolism
  • Desmosomes / chemistry*
  • Heart Conduction System / physiopathology
  • Humans
  • Membrane Proteins / analysis*
  • Membrane Proteins / genetics
  • Membrane Proteins / physiology
  • Microscopy, Immunoelectron
  • Muscle Proteins / analysis*
  • Muscle Proteins / genetics
  • Muscle Proteins / physiology
  • Muscular Dystrophies / complications
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / metabolism
  • Muscular Dystrophies / physiopathology
  • Muscular Dystrophy, Emery-Dreifuss
  • Myocardium / chemistry*
  • Myocardium / ultrastructure
  • Nuclear Envelope / chemistry*
  • Nuclear Proteins
  • Phosphorylation
  • Protein Processing, Post-Translational
  • Thymopoietins / analysis*
  • Thymopoietins / genetics
  • Thymopoietins / physiology
  • X Chromosome

Substances

  • Cytoskeletal Proteins
  • Membrane Proteins
  • Muscle Proteins
  • Nuclear Proteins
  • Thymopoietins
  • emerin