Two mutations in the IV/S4-S5 segment of the human skeletal muscle Na+ channel disrupt fast and enhance slow inactivation

Neurosci Lett. 2001 Jun 29;306(3):173-6. doi: 10.1016/s0304-3940(01)01895-x.

Abstract

Fast and slow inactivation (FI, SI) of the voltage-gated Na+ channel are two kinetically distinct and structurally dissociated processes. The voltage sensor IV/S4 and the intracellular IV/S4-S5 loop have been shown to play an important role in FI mediating the coupling between activation and inactivation. Two mutations in IV/S4-S5 of the human muscle Na+ channel, L1482C/A, disrupt FI by inducing a persistent Na+ current, shifting steady-state inactivation in the depolarizing direction and accelerating its recovery. These effects were more pronounced for L1482A. In contrast, SI of L1482C/A channels was enhanced showing a more complete SI and a 3-fold slowing of its recovery. Effects on SI were more pronounced for L1482C. The results indicate an important role of the IV/S4-S5 loop not only in FI but also in SI of the Na+ channel.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Humans
  • Ion Channel Gating / genetics*
  • Membrane Potentials / physiology
  • Muscle, Skeletal / metabolism*
  • Mutagenesis, Site-Directed / physiology
  • Myotonia / genetics
  • Myotonia / metabolism
  • Paralysis / genetics
  • Paralysis / metabolism
  • Patch-Clamp Techniques
  • Sodium Channels / genetics*
  • Sodium Channels / metabolism*

Substances

  • Sodium Channels