A-type nuclear lamins, progerias and other degenerative disorders

Erica D. Smith, Brian A. Kudlow, Richard L. Frock, Brian K. Kennedy*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

43 Scopus citations


Nuclear lamins were identified as core nuclear matrix constituents over 20 years ago. They have been ascribed structural roles such as maintaining nuclear integrity and assisting in nuclear envelope formation after mitosis, and have also been linked to nuclear activities including DNA replication and transcription. Recently, A-type lamin mutations have been linked to a variety of rare human diseases including muscular dystrophy, lipodystrophy, cardiomyopathy, neuropathy and progeroid syndromes (collectively termed laminopathies). Most diseases arise from dominant, missense mutations, leading to speculation as to how different mutations in the same gene can give rise to such a diverse set of diseases, some of which share little phenotypic overlap. Understanding the cellular dysfunctions that lead to laminopathies will almost certainly provide insight into specific roles of A-type lamins in nuclear organization. Here, we compare and contrast the LMNA mutations leading to laminopathies with emphasis on progerias, and discuss possible functional roles for A-type lamins in the maintenance of healthy tissues.

Original languageEnglish (US)
Pages (from-to)447-460
Number of pages14
JournalMechanisms of Ageing and Development
Issue number4
StatePublished - Apr 2005


  • Dystrophic syndromes
  • Lamin
  • Nuclear organization
  • Progeria

ASJC Scopus subject areas

  • Aging
  • Developmental Biology


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