Nuclear envelope proteins and chromatin arrangement: a pathogenic mechanism for laminopathies

Eur J Histochem. 2006 Jan-Mar;50(1):1-8.

Abstract

The involvement of the nuclear envelope in the modulation of chromatin organization is strongly suggested by the increasing number of human diseases due to mutations of nuclear envelope proteins. A common feature of these diseases, named laminopathies, is the occurrence of major chromatin defects. We previously reported that cells from laminopathic patients show an altered nuclear profile, and loss or detachment of heterochromatin from the nuclear envelope. Recent evidence indicates that processing of the lamin A precursor is altered in laminopathies featuring pre-mature aging and/or lipodystrophy phenotype. In these cases, pre-lamin A is accumulated in the nucleus and heterochromatin is severely disorganized. Here we report evidence indicating that pre-lamin A is mis-localized in the nuclei of Emery-Dreifuss muscular dystrophy fibroblasts, either bearing lamin A/C or emerin mutations. Abnormal pre-lamin A-containing structures are formed following treatment with a farnesyl-transferase inhibitor, a drug that causes accumulation of pre-lamin A. Pre-lamin A-labeled structures co-localize with heterochromatin clumps. These data indicate that in almost all laminopathies the expression of the mutant lamin A precursor disrupts the organization of heterochromatin domains. Our results further show that the absence of emerin expression alters the distribution of pre-lamin A and of heterochromatin areas, suggesting a major involvement of emerin in pre-lamin A-mediated mechanisms of chromatin remodeling.

Publication types

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

MeSH terms

  • Aging, Premature / genetics
  • Animals
  • Chromatin Assembly and Disassembly* / genetics
  • Heterochromatin* / genetics
  • Heterochromatin* / metabolism
  • Humans
  • Lamin Type A* / genetics
  • Lamin Type A* / metabolism
  • Lipodystrophy / genetics
  • Lipodystrophy / metabolism
  • Membrane Proteins / genetics
  • Membrane Proteins / metabolism
  • Muscular Dystrophy, Emery-Dreifuss / genetics
  • Muscular Dystrophy, Emery-Dreifuss / metabolism
  • Mutation
  • Nuclear Envelope / metabolism*
  • Nuclear Proteins
  • Thymopoietins / genetics
  • Thymopoietins / metabolism

Substances

  • Heterochromatin
  • Lamin Type A
  • Membrane Proteins
  • Nuclear Proteins
  • Thymopoietins
  • emerin