Non-genomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita

Neuromuscul Disord. 2008 Nov;18(11):869-72. doi: 10.1016/j.nmd.2008.07.004. Epub 2008 Sep 23.

Abstract

Myotonia congenita is caused by mutations in the voltage-gated chloride channel ClC-1. It is more severe in men than women and often worsens during pregnancy, but the basis for these gender differences is not known. We show here that both testosterone and progesterone rapidly and reversibly inhibit wild-type ClC-1 channels expressed in Xenopus oocytes by causing a prominent rightward shift in the voltage dependence of their open probability. In contrast, 17beta-estradiol at similar concentrations causes only a small shift. Progesterone and testosterone also profoundly inhibit ClC-1 channels containing the mutation F297S associated with dominantly inherited myotonia congenita. The effects of sex hormones are likely to be non-genomic because of their speed of onset and reversibility. These results suggest a possible mechanism to explain how the severity of myotonia congenita can be modulated by sex hormones.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cells, Cultured
  • Chloride Channels / genetics
  • Chloride Channels / physiology*
  • Electrodes
  • Electrophysiology / instrumentation
  • Electrophysiology / methods
  • Female
  • Membrane Potentials / drug effects
  • Membrane Potentials / physiology
  • Mutagenesis, Site-Directed
  • Mutation
  • Myotonia Congenita / genetics
  • Myotonia Congenita / physiopathology*
  • Oocytes / cytology
  • Oocytes / drug effects
  • Oocytes / physiology
  • Patch-Clamp Techniques / instrumentation
  • Patch-Clamp Techniques / methods
  • Progesterone / pharmacology*
  • Sex Factors
  • Testosterone / pharmacology*
  • Xenopus

Substances

  • CLC-1 channel
  • Chloride Channels
  • Testosterone
  • Progesterone