Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation

Genes Dev. 2006 Feb 15;20(4):486-500. doi: 10.1101/gad.1364906.

Abstract

Mutations within LMNA, encoding A-type nuclear lamins, are associated with multiple tissue-specific diseases, including Emery-Dreifuss (EDMD2/3) and Limb-Girdle muscular dystrophy (LGMD1B). X-linked EDMD results from mutations in emerin, a lamin A-associated protein. The mechanisms through which these mutations cause muscular dystrophy are not understood. Here we show that most, but not all, cultured muscle cells from lamin A/C knockout mice exhibit impaired differentiation kinetics and reduced differentiation potential. Similarly, normal muscle cells that have been RNA interference (RNAi) down-regulated for either A-type lamins or emerin have impaired differentiation potentials. Replicative myoblasts lacking A-type lamins or emerin also have decreased levels of proteins important for muscle differentiation including pRB, MyoD, desmin, and M-cadherin; up-regulated Myf5; but no changes in Pax3, Pax7, MEF2C, MEF2D, c-met, and beta-catenin. To determine whether impaired myogenesis is linked to reduced MyoD or desmin levels, these proteins were individually expressed in Lmna(-/-) myoblasts that were then induced to undergo myogenesis. Expression of either MyoD or, more surprisingly, desmin in Lmna(-/-) myoblasts resulted in increased differentiation potential. These studies indicate roles for A-type lamins and emerin in myogenic differentiation and also suggest that these effects are at least in part due to decreased endogenous levels of other critical myoblast proteins. The delayed differentiation kinetics and decreased differentiation potential of lamin A/C-deficient and emerin-deficient myoblasts may in part underlie the dystrophic phenotypes observed in patients with EDMD.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Blotting, Western
  • Cell Differentiation / physiology*
  • Desmin / metabolism
  • Gene Expression Regulation*
  • Immunohistochemistry
  • Lamin Type A / genetics*
  • Lamin Type A / metabolism
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism
  • Mice
  • Mice, Knockout
  • Muscular Dystrophies / genetics*
  • Mutation / genetics
  • MyoD Protein / metabolism
  • Nuclear Proteins
  • Oligonucleotides
  • Polymerase Chain Reaction
  • RNA Interference
  • Satellite Cells, Skeletal Muscle / physiology*
  • Thymopoietins / genetics*
  • Thymopoietins / metabolism

Substances

  • Desmin
  • Lamin Type A
  • Membrane Proteins
  • MyoD Protein
  • Nuclear Proteins
  • Oligonucleotides
  • Thymopoietins
  • emerin
  • lamin C