Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle

Ann Neurol. 1996 May;39(5):599-608. doi: 10.1002/ana.410390509.

Abstract

Twitch force and Na+ currents were investigated in a muscle biopsy specimen from a patient with paramyotonia congenita carrying the dominant Arg-1448-Pro mutation in the skeletal muscle sodium channel. Cooling of the muscle fibers caused sustained membrane depolarization that resulted in reduced twitch force. Membrane repolarization, produced by a K+ channel opener, partly prevented and antagonized the drop in twitch force. Patch-clamp recordings on sarcolemmal blebs revealed a distinctly slower Na+ current decay on paramyotonia congenita muscle compared to control muscle. In addition, patches with mutant Na+ channels showed a significantly higher frequency of steady-state openings, which increased with cooling. Activation of mutant channels was not affected, whereas the steady-state inactivation curve was shifted by -5 mV and showed less voltage dependence. We suggest that the weakness of cooled muscle can be explained by a combination of the increased steady-state Na+ current and the left-shifted inactivation curve.

Publication types

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

MeSH terms

  • Adult
  • Arginine / genetics
  • Biopsy
  • Cold Temperature
  • Female
  • Hot Temperature
  • Humans
  • Ion Channel Gating / physiology*
  • Isometric Contraction / physiology
  • Microelectrodes
  • Muscle Weakness / physiopathology
  • Muscle, Skeletal / chemistry
  • Muscle, Skeletal / physiology*
  • Myotonia Congenita / genetics*
  • Myotonia Congenita / physiopathology
  • Patch-Clamp Techniques
  • Point Mutation / physiology
  • Proline / genetics
  • Sodium Channels / genetics*
  • Walking

Substances

  • Sodium Channels
  • Arginine
  • Proline