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

Fialho, D; Kullmann, DM; Hanna, MG; Schorge, S; (2008) Non-genomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita. Neuromuscular Disorders , 18 (11) 869 - 872. 10.1016/j.nmd.2008.07.004. Green open access

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Abstract

Myotonia congenita is caused by mutations in the voltage-gated chloride channel CIC-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 CIC-1 channels expressed in Xenopus oocytes by causing a prominent rightward shift in the voltage dependence of their open probability. In contrast, 17 beta-estradiol at similar concentrations causes only a small shift. Progesterone and testosterone also profoundly inhibit CIC-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. (c) 2008 Elsevier B.V. All rights reserved.

Type: Article
Title: Non-genomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.nmd.2008.07.004
Publisher version: http://dx.doi.org/10.1016/j.nmd.2008.07.004
Language: English
Additional information: © 2008 Elsevier B.V. This manuscript is made available under a Creative Commons Attribution Non-commercial Non-derivative 4.0 International license (CC BY-NC-ND 4.0). This license allows you to share, copy, distribute and transmit the work for personal and non-commercial use providing author and publisher attribution is clearly stated. Further details about CC BY licenses are available at http://creativecommons.org/ licenses/by/4.0. Access may be initially restricted by the publisher.
Keywords: CLC-1, hormone, non-genomic, myotonia congenita, chloride channel, muscle chloride channel, heterozygous carriers, clc-1, hormone, non-genomic, myotonia congenita, chloride channel, muscle chloride channel, heterozygous carriers, steroid-hormones, skeletal-muscle, ion channels, progesterone, dominant, receptors, pregnancy, pathways
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Experimental Epilepsy
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > UCL School of Pharmacy
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > UCL School of Pharmacy > Pharmacology
URI: http://discovery.ucl.ac.uk/id/eprint/178308
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