Biophysical characterization of a new SCN5A mutation S1333Y in a SIDS infant linked to long QT syndrome.

Publication Type:

Journal Article

Authors:

Huang, Hai; Millat, Gilles; Rodriguez-Lafrasse, Claire; Rousson, Robert; Kugener, Béatrice; Chevalier, Philippe; Mohamed Chahine

Source:

FEBS Lett, Volume 583, Issue 5, p.890-6 (2009)

Keywords:

Base Sequence, Cell Line, Electrophysiology, Humans, Infant, Ion Channel Gating, Long QT Syndrome, Muscle Proteins, Mutation, NAV1.5 Voltage-Gated Sodium Channel, Patch-Clamp Techniques, Serine, Sodium Channels, Sudden Infant Death

Abstract:

<p>Various entities and genetic etiologies, including inherited long QT syndrome type 3 (LQT3), contribute to sudden infant death syndrome (SIDS). The goal of our research was to biophysically characterize a new SCN5A mutation (S1333Y) in a SIDS infant. S1333Y channels showed the gain of Na(+) channel function characteristic of LQT3, including a persistent inward Na(+) current and an enhanced window current that was generated by a -8 mV shift in activation and a +7 mV shift in inactivation. The correlation between the biophysical data and arrhythmia susceptibility suggested that the SIDS was secondary to the LQT3-associated S1333Y mutation.</p>