PMID: 8584443Jan 1, 1996Paper

Expression and functional characterization of the cardiac L-type calcium channel carrying a skeletal muscle DHP-receptor mutation causing hypokalaemic periodic paralysis

Pflügers Archiv : European journal of physiology
H LercheW Melzer

Abstract

A histidine substitution for the outermost arginine in II/S4 of the alpha1 subunit of the human skeletal muscle dihydropyridine (DHP) receptor has been reported to cause hypokalaemic periodic paralysis (HypoPP). This mutation shifts the voltage dependence of L-type Ca curent inactivation in myotubes from HypoPP patients by -40 mV without affecting activation. Based on the strong homology of II/S4 in cardiac and skeletal muscle alpha1, we introduced the corresponding mutation into the rabbit cardiac alpha1 subunit (R650H). Wild type (WT) and mutant constructs were transiently transfected in HEK cells together with beta and alpha2delta subunits and Ca and Ba currents were studied using the whole-cell patch-clamp technique. In contrast to the results obtained from human myotubes, R650H produced a small (-5 mV) but significant shift of both the steady-state activation and inactivation curves. When external pH was increased from 7.4 to 8.4 in order to favour deprotonization of H650, the only difference between WT and mutant channels was a slightly reduced steepness of the inactivation curve. Additional cotransfection of the gamma subunit which is only found in skeletal but not in heart muscle, shifted the inactivation curves of both...Continue Reading

References

Jul 1, 1995·Pflügers Archiv : European journal of physiology·X ZongF Hofmann
May 8, 1995·Biochimica Et Biophysica Acta·W MelzerH C Lüttgau
Aug 1, 1994·Human Molecular Genetics·K Jurkat-RottJ Weissenbach
Dec 1, 1995·Naunyn-Schmiedeberg's Archives of Pharmacology·C SeisenbergerF Hofmann

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Citations

Mar 3, 2007·Pflügers Archiv : European journal of physiology·Alexey KuzmenkinKarin Jurkat-Rott
Mar 3, 2007·Pflügers Archiv : European journal of physiology·Alexey KuzmenkinKarin Jurkat-Rott
Mar 20, 2002·Current Neurology and Neuroscience Reports·Frank Lehmann-HornReinhardt Rüdel
Apr 30, 1998·Molecular Aspects of Medicine·B FontaineS Nicole
Aug 24, 2000·Proceedings of the National Academy of Sciences of the United States of America·R L Ruff
Aug 3, 2005·The Journal of Clinical Investigation·Karin Jurkat-Rott, Frank Lehmann-Horn
Jun 27, 2007·The Journal of General Physiology·Arie F Struyk, Stephen C Cannon
Dec 4, 2010·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Lin YangSteven O Marx
Apr 5, 2003·The Journal of Biological Chemistry·Myoung-Goo Kang, Kevin P Campbell

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