Key result
The I1768V mutation in the SCN5A gene caused mutant channels to recover 2.4 times faster from inactivation than wild-type channels, destabilizing the inactivated state.
Why the study?
Does the I1768V mutation in SCN5A alter the functional properties of cardiac sodium channels compared to wild-type?
Population
Xenopus oocytes expressing mutant (I1768V) and wild-type human cardiac sodium channel gene SCN5A cRNAs
Comparison
I1768V mutation in the SCN5A gene vs Wild-type SCN5A channels
Design
Preclinical
Authors
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May underlie LQT3 in SCN5A carriers; leaves open human translation from animal channels.
Does the I1768V mutation in SCN5A alter the functional properties of cardiac sodium channels compared to wild-type?
The I1768V mutation in SCN5A causes Long QT3 syndrome by destabilizing the inactivated state of the cardiac sodium channel, leading to faster recovery from inactivation rather than increasing persistent inward sodium current.
W. Antoinette Groenewegen (2003) studied Long QT3 syndrome. I1768V mutation in SCN5A vs. Wild-type channels was evaluated on Channel activation and inactivation kinetics. The I1768V mutation in the SCN5A gene caused mutant channels to recover 2.4 times faster from inactivation than wild-type channels, destabilizing the inactivated state.
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