Authors
Paloma Nieto-Marin, Juan Jimenez-Jaimez, David Tinaquero, Silvia Alfayate, Raquel G Utrilla, Francesca Perin, Geòrgia Sarquella-Brugada, Lorenzo Monserrat, Josep Brugada, Luis Tercedor, Juan Tamargo, Eva Delpón, Ricardo Caballero
Publication date
2019/4/1
Journal
Revista Española de Cardiología (English Edition)
Volume
72
Issue
4
Pages
324-332
Publisher
Elsevier Doyma
Description
Introduction and objectives
A known long QT syndrome-related mutation in Nav1.5 cardiac channels (p.R1644H) was found in 4 members of a Spanish family but only 1 of them showed prolongation of the QT interval. In the other 3 relatives, a novel missense mutation in Cav1.2 cardiac channels was found (p.S1961N). Here, we functionally analyzed p.S1961N Cav1.2 channels to elucidate whether this mutation regulates the expressivity of the long QT syndrome phenotype in this family.
Methods
L-type calcium current (ICaL) recordings were performed by using the whole-cell patch-clamp technique in Chinese hamster ovary cells transiently transfected with native and/or p.S1961N Cav1.2 channels.
Results
Expression of p.S1961N channels significantly decreased ICaL density. Using Ba as a charge carrier to suppress the Ca-dependent inactivation of Cav1.2 channels, we demonstrated that the mutation significantly …
Scholar articles
P Nieto-Marin, J Jimenez-Jaimez, D Tinaquero… - Revista Española de Cardiología (English Edition), 2019
P Nieto-Marín, J Jiménez-Jáimez, D Tinaquero… - Revista Española de Cardiología, 2019