The nuclear lamina and inherited disease

Trends Cell Biol. 2002 Dec;12(12):591-8. doi: 10.1016/s0962-8924(02)02401-7.


Inherited disorders of the nuclear lamina present some of the most intriguing puzzles in cell biology. Mutations in lamin A and lamin C - nuclear intermediate filament proteins that are expressed in nearly all somatic cells - cause tissue-specific diseases that affect striated muscle, adipose tissue and peripheral nerve or skeletal development. Recent studies provide clues about how different mutations in these proteins cause either muscle disease or partial lipodystrophy. Although the precise pathogenic mechanisms are currently unknown, the involvement of lamins in several different disorders shows that research on the nuclear lamina will shed light on common human pathologies.

Publication types

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

MeSH terms

  • Animals
  • Disease Models, Animal
  • Genetic Diseases, Inborn / genetics*
  • Genetic Diseases, Inborn / metabolism*
  • Genetic Diseases, Inborn / pathology
  • Humans
  • Lamin Type A / chemistry
  • Lamin Type A / genetics*
  • Lamin Type A / metabolism*
  • Mutation / genetics
  • Nuclear Lamina / genetics
  • Nuclear Lamina / metabolism*


  • Lamin Type A
  • lamin C