Telethonin variants found in Brugada syndrome, J-wave pattern ECG, and ARVC reduce peak Nav 1.5 currents in HEK-293 cells.

Isik TurkerTakeru MakiyamaTakeshi UeyamaAkihiko ShimizuMasaru YamakawaPeng-Sheng ChenMatteo VattaMinoru HorieTomohiko Ai

Published in: Pacing and clinical electrophysiology : PACE (2020)

We found two TCAP variants in the patients with BrS, J-wave pattern ECG, and ARVC that can cause loss-of-function of the hNav 1.5 in heterologous expression systems. Our observation suggests that these variants might impair INa and be associated with the patients' electrophysiological phenotypes. Further studies linking our experimental data to clinical phenotypes are warranted.

Keyphrases

copy number
end stage renal disease
newly diagnosed
induced apoptosis
ejection fraction
poor prognosis
heart rate variability
heart rate
prognostic factors
big data
gene expression
cell proliferation