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J Biol Chem, Vol. 273, Issue 10, 5586-5590, March 6, 1998
From the Institut für Biochemische Pharmakologie,
Peter-Mayr-Strasse 1, A-6020 Innsbruck, Austria
Missense mutations in the pore-forming human
Changes in channel gating were observed for mutants T666M, V714A, and
I1819L but not for R192Q. Ba2+ current
(IBa) inactivation was slightly faster in
mutants T666M and V714A than in wild type. The time course of recovery
from channel inactivation was slower than in wild type in T666M and accelerated in V714A and I1819L. As a consequence, accumulation of
channel inactivation during a train of 1-Hz pulses was more pronounced
for mutant T666M and less pronounced for V714A and I1819A. Our data
demonstrate that three of the four FHM mutations, located at the
putative channel pore, alter inactivation gating and provide a
pathophysiological basis for the postulated neuronal instability in
patients with FHM.
Familial Hemiplegic Migraine Mutations Change
1A
Ca2+ Channel Kinetics
1A subunit of neuronal P/Q-type Ca2+
channels are associated with familial hemiplegic migraine (FHM). The
pathophysiological consequences of these mutations are unknown. We have
introduced the four single mutations reported for the human
1A subunit into the conserved rabbit 1A
(R192Q, T666M, V714A, and I1819L) and investigated possible changes in
channel function after functional expression of mutant subunits in
Xenopus laevis oocytes.
Copyright © 1998 by The American Society for Biochemistry and Molecular Biology, Inc.
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