Advances in basic and clinical research in laminopathies

Acta Myol. 2013 May;32(1):18-22.

Abstract

Lamins (LMNA) are the main proteins of the nuclear lamina considered to be the ancestors of all intermediate filament proteins. They form complex protein assemblies with integral proteins of the inner nuclear membrane, transcriptional regulators, histones and chromatin modifiers. During recent years, interest in lamins has greatly increased due to the identification of many distinct heritable human disorders associated with lamin mutations. These disorders, collectively termed laminopathies, range from muscular dystrophies to premature aging. They may affect muscle, fat, bone, nerve and skin tissues. The workshop was addressed to understand lamin organization and its roles in nuclear processes, mutations in lamins affecting cell and tissues functions, the biology of the nucleus and laminopathic disease mechanisms, all aspects important for designing future therapies.

Keywords: Emery-Dreifuss muscular dystrophy; LMNA A/C gene; laminopathies.

Publication types

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

MeSH terms

  • Biomedical Research / methods*
  • Genetic Predisposition to Disease*
  • Genetic Techniques*
  • Humans
  • Lamins / genetics*
  • Lamins / metabolism
  • Lipodystrophy* / diagnosis
  • Lipodystrophy* / genetics
  • Lipodystrophy* / metabolism

Substances

  • Lamins