Click here to close
Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly.
We suggest using a current version of Chrome,
FireFox, or Safari.
J Bioenerg Biomembr
1998 Dec 01;306:579-88. doi: 10.1023/a:1020536601658.
Show Gene links
Show Anatomy links
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.
???displayArticle.abstract???
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).
Auld,
A rat brain Na+ channel alpha subunit with novel gating properties.
1988, Pubmed,
Xenbase
Auld,
A rat brain Na+ channel alpha subunit with novel gating properties.
1988,
Pubmed
,
Xenbase Barchi,
Molecular pathology of the skeletal muscle sodium channel.
1995,
Pubmed Bulman,
Phenotype variation and newcomers in ion channel disorders.
1997,
Pubmed Cannon,
Modification of the Na+ current conducted by the rat skeletal muscle alpha subunit by coexpression with a human brain beta subunit.
1993,
Pubmed Cannon,
Sodium channel defects in myotonia and periodic paralysis.
1996,
Pubmed Cannon,
Theoretical reconstruction of myotonia and paralysis caused by incomplete inactivation of sodium channels.
1993,
Pubmed Chahine,
Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation.
1994,
Pubmed Chang,
Modal behavior of the mu 1 Na+ channel and effects of coexpression of the beta 1-subunit.
1996,
Pubmed
,
Xenbase Cummins,
Impaired slow inactivation in mutant sodium channels.
1996,
Pubmed Hamill,
Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches.
1981,
Pubmed Hayward,
Slow inactivation differs among mutant Na channels associated with myotonia and periodic paralysis.
1997,
Pubmed Hayward,
Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker.
1996,
Pubmed Hoffman,
Overexcited or inactive: ion channels in muscle disease.
1995,
Pubmed Isom,
Functional co-expression of the beta 1 and type IIA alpha subunits of sodium channels in a mammalian cell line.
1995,
Pubmed
,
Xenbase Ji,
Voltage-dependent regulation of modal gating in the rat SkM1 sodium channel expressed in Xenopus oocytes.
1994,
Pubmed
,
Xenbase Ji,
Paramyotonia congenita mutations reveal different roles for segments S3 and S4 of domain D4 in hSkM1 sodium channel gating.
1996,
Pubmed Kunkel,
Rapid and efficient site-specific mutagenesis without phenotypic selection.
1985,
Pubmed Liman,
Subunit stoichiometry of a mammalian K+ channel determined by construction of multimeric cDNAs.
1992,
Pubmed
,
Xenbase Makita,
Voltage-gated Na+ channel beta 1 subunit mRNA expressed in adult human skeletal muscle, heart, and brain is encoded by a single gene.
1994,
Pubmed
,
Xenbase Mitrovic,
Role in fast inactivation of conserved amino acids in the IV/S4-S5 loop of the human muscle Na+ channel.
1996,
Pubmed Mitrović,
K(+)-aggravated myotonia: destabilization of the inactivated state of the human muscle Na+ channel by the V1589M mutation.
1994,
Pubmed Moorman,
Fast and slow gating of sodium channels encoded by a single mRNA.
1990,
Pubmed
,
Xenbase Moran,
Inactivation defects produced by a myopathic II-S6 mutation of the muscle sodium channel.
1998,
Pubmed Patton,
The adult rat brain beta 1 subunit modifies activation and inactivation gating of multiple sodium channel alpha subunits.
1994,
Pubmed
,
Xenbase Richmond,
Human Na+ channel fast and slow inactivation in paramyotonia congenita mutants expressed in Xenopus laevis oocytes.
1997,
Pubmed
,
Xenbase Richmond,
Defective fast inactivation recovery and deactivation account for sodium channel myotonia in the I1160V mutant.
1997,
Pubmed
,
Xenbase Stühmer,
Electrophysiological recording from Xenopus oocytes.
1992,
Pubmed
,
Xenbase Sugimoto,
A simple and efficient method for the oligonucleotide-directed mutagenesis using plasmid DNA template and phosphorothioate-modified nucleotide.
1989,
Pubmed Tahmoush,
Muscle sodium channel inactivation defect in paramyotonia congenita with the thr1313met mutation.
1994,
Pubmed Trimmer,
Primary structure and functional expression of a mammalian skeletal muscle sodium channel.
1989,
Pubmed
,
Xenbase Ukomadu,
muI Na+ channels expressed transiently in human embryonic kidney cells: biochemical and biophysical properties.
1992,
Pubmed Wallner,
Modulation of the skeletal muscle sodium channel alpha-subunit by the beta 1-subunit.
1993,
Pubmed
,
Xenbase Wendt,
Na channel kinetics remain stable during perforated-patch recordings.
1992,
Pubmed Yang,
Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro.
1994,
Pubmed Zhou,
Multiple gating modes and the effect of modulating factors on the microI sodium channel.
1991,
Pubmed
,
Xenbase
