Life at the edge: the nuclear envelope and human disease

Nat Rev Mol Cell Biol. 2002 Aug;3(8):575-85. doi: 10.1038/nrm879.


A group of human diseases, known as 'laminopathies', are associated with defects in proteins of the nuclear envelope. Most laminopathy mutations have been mapped to the A-type lamin gene, which is expressed in most adult cell types. So, why should different mutations in a near-ubiquitously expressed gene be associated with various discrete tissue-restricted diseases? Attempts to resolve this paradox are uncovering new molecular interactions #151; both inside the nucleus and at its periphery -- which indicate that the nuclear envelope has functions that go beyond mere housekeeping.

Publication types

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

MeSH terms

  • Animals
  • Fibroblasts / metabolism
  • Fibroblasts / ultrastructure
  • Humans
  • Lamins
  • Lipodystrophy / genetics
  • Lipodystrophy / physiopathology
  • Models, Biological
  • Models, Molecular
  • Muscle, Skeletal / physiopathology
  • Muscle, Skeletal / ultrastructure
  • Muscular Diseases / genetics
  • Muscular Diseases / physiopathology
  • Nuclear Envelope / physiology*
  • Nuclear Envelope / ultrastructure
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / metabolism
  • Protein Structure, Tertiary


  • Lamins
  • Nuclear Proteins