Technical Reference #779

779.

Nav1.5 E1053K Mutation Causing Brugada Syndrome Blocks Binding To Ankyrin-G And Expression Of Nav1.5 On The Surface Of Cardiomyocytes Peter J. Mohler*‡, Ilaria Rivolta§, Carlo Napolitano§, Guy LeMaillet, Stephen Lambert, Silvia G. Priori§, and Vann Bennett, Duke University, University of Pavia, University of Massachusetts Medical School, PNAS, 101(779), 17534, (2004)
Link To Paper

Abstract:
We identify a human mutation (E1053K) in the ankyrin-binding motif of Nav1.5 that is associated with Brugada syndrome, a fatalcardiac arrhythmia caused by altered function of Nav1.5. TheE1053K mutation abolishes binding of Nav1.5 to ankyrin-G, andal

Keywords:
arrhythmia SCN5A targeting trafficking sudden cardiac death

Materials & Methods:
After washes, buffer was removed and the pellet was resuspended in Vectashield and plated onto Mattek 35-mm plates.

Microscopic Technique
Confocal Microscopy

Cell Type(s)
Cardiac myocytes