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J Bioenerg Biomembr
1998 Dec 01;306:579-88. doi: 10.1023/a:1020536601658.
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Fast- and slow-gating modes of the sodium channel are altered by a paramyotonia congenita-linked mutation.
Moran O
,
Melani R
,
Nizzari M
,
Conti F
.
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We have studied the expression in frog oocytes of the alpha subunit of the rat skeletal muscle sodium channel mutation T1306M, homologous to the mutation T1313M of the human isoform that causes the muscular hereditary disease paramyotonia congenita. Wild-type (WT) channels show a bimodal behavior, with two gating modes characterized by inactivation time constants that differ at least by one order of magnitude and with voltage dependencies shifted by +27 mV in the slow mode (M2) relative to the fast (M1) mode. In the myopathy-linked mutant the propensity of the channel for the mode M2 is increased fourfold and the kinetics and voltage dependence of inactivation in both modes are altered. In mode M1, the onset of inactivation is faster and the recovery from inactivation is slower whereas both processes are slowed in mode M2. The half-inactivation potential of both modes is shifted by the mutation to positive potentials. Coexpression of beta subunit causes a threefold reduction of the M2 propensity of both WT and T1306M channels, with small changes in the voltage dependency and kinetic properties of inactivation. All the changes are consistent with the hyperexcitability of the muscle fibers observed in patients affected by potassium-aggrevated myotonia (PAM).
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