Characterization of N-terminally mutated cardiac Na(+) channels associated with long QT syndrome 3 and Brugada syndrome.

ABSTRACT: Mutations in SCN5A, the gene encoding the cardiac voltage-gated Na(+) channel hNav1.5, can result in life-threatening arrhythmias including long QT syndrome 3 (LQT3) and Brugada syndrome (BrS). Numerous mutant hNav1.5 channels have been characterized upon heterologous expression and patch-clamp recordings during the last decade. These studies revealed functionally important regions in hNav1.5 and provided insight into gain-of-function or loss-of-function channel defects underlying LQT3 or BrS, respectively. The N-terminal region of hNav1.5, however, has not yet been investigated in detail, although several mutations were reported in the literature. In the present study we investigated three mutant channels, previously associated with LQT3 (G9V, R18W, V125L), and six mutant channels, associ

SUBMITTER: Gutter C 

PROVIDER: S-EPMC3693076 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature