Expression of cardiac alpha-actin spares extraocular muscles in skeletal muscle alpha-actin diseases--quantification of striated alpha-actins by MRM-mass spectrometry

Neuromuscul Disord. 2008 Dec;18(12):953-8. doi: 10.1016/j.nmd.2008.09.010. Epub 2008 Oct 25.

Abstract

As with many skeletal muscle diseases, the extraocular muscles (EOMs) are spared in skeletal muscle alpha-actin diseases, with no ophthalmoplegia even in severely affected patients. We hypothesised that the extraocular muscles sparing in these patients was due to significant expression of cardiac alpha-actin, the alpha-actin isoform expressed in heart and foetal skeletal muscle. We have shown by immunochemistry, Western blotting and a novel MRM-mass spectrometry technique, comparable levels of cardiac alpha-actin in the extraocular muscles of human, pig and sheep to those in the heart. The sparing of extraocular muscles in skeletal muscle alpha-actin disease is thus probably due to greater levels of cardiac alpha-actin, than the negligible amounts in skeletal muscles, diluting out the effects of the mutant skeletal muscle alpha-actin.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Actins / analysis
  • Actins / metabolism*
  • Animals
  • Blotting, Western
  • Guinea Pigs
  • Humans
  • Immunochemistry
  • Mass Spectrometry
  • Muscle, Skeletal / metabolism*
  • Myocardium / metabolism*
  • Oculomotor Muscles / metabolism*
  • Protein Isoforms / analysis
  • Protein Isoforms / metabolism
  • Sheep
  • Species Specificity

Substances

  • Actins
  • Protein Isoforms