Article
Arrhythmogenic Biophysical Phenotype for SCN5A Mutation S1787N Depends upon Splice Variant Background and Intracellular Acidosis.
PloS one - 1 Jan 2015
Hu Rou-Mu, Tan Bi-Hua, Tester David J, Song Chunhua, He Yang, Dovat Sinisa, Peterson Blaise Z, Ackerman Michael J, Makielski Jonathan C
Abstract excerpt
BACKGROUND: SCN5A is a susceptibility gene for type 3 long QT syndrome, Brugada syndrome, and sudden infant death syndrome. INa dysfunction from mutated SCN5A can depend upon the splice variant background in which it is expressed and also upon environmental factors such as acidosis. S1787N was reported previously as a LQT3-associated mutation and has also been observed in 1 of 295 healthy white controls. Here, we...
Topics
- Acidosis
- Arrhythmias, Cardiac
- Base Sequence
- Cardiac Conduction System Disease
- HEK293 Cells
- Humans
- Hydrogen-Ion Concentration
- Long QT Syndrome
- Membrane Potentials
- Mutagenesis, Site-Directed
- NAV1.5 Voltage-Gated Sodium Channel
- Patch-Clamp Techniques