Functional domains of the nucleus: implications for Emery-Dreifuss muscular dystrophy

Neuromuscul Disord. 2002 Nov;12(9):815-23. doi: 10.1016/s0960-8966(02)00067-6.

Abstract

Elucidation of the pathophysiology of Emery-Dreifuss muscular dystrophy, caused by mutations in emerin or lamin A/C, will require deciphering the role of these proteins in the functional organization of the nuclear envelope. This review focuses on nuclear envelope related mechanisms that modulate chromatin arrangement and control of gene transcription, both potential targets of the disease process in Emery-Dreifuss muscular dystrophy. Interactions of these proteins with chromatin- and nuclear matrix-associated proteins are now of particular interest, since chromatin alterations occur in cells in Emery-Dreifuss muscular dystrophy. Both emerin and lamin A/C interact with nuclear actin, a component of the chromatin remodeling complex associated with the nuclear matrix, suggesting that either chromatin arrangement, or gene transcription, or both, might be impaired in the disease.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Cell Nucleus / metabolism
  • Cell Nucleus / physiology*
  • Chromatin / genetics*
  • Gene Expression
  • Humans
  • Membrane Proteins / genetics
  • Muscular Dystrophy, Emery-Dreifuss / genetics
  • Muscular Dystrophy, Emery-Dreifuss / metabolism
  • Muscular Dystrophy, Emery-Dreifuss / physiopathology*
  • Nuclear Envelope / metabolism
  • Nuclear Envelope / physiology
  • Nuclear Matrix / metabolism
  • Nuclear Matrix / physiology
  • Nuclear Proteins / genetics
  • Nuclear Proteins / metabolism
  • Signal Transduction / genetics
  • Signal Transduction / physiology
  • Transcription, Genetic
  • X Chromosome

Substances

  • Chromatin
  • Membrane Proteins
  • Nuclear Proteins