Telethonin variants found in Brugada syndrome, J-wave pattern ECG, and ARVC reduce peak Na
ARVC
Brugada
J-wave syndromes
arrhythmias
sudden cardiac death
telethonin
Journal
Pacing and clinical electrophysiology : PACE
ISSN: 1540-8159
Titre abrégé: Pacing Clin Electrophysiol
Pays: United States
ID NLM: 7803944
Informations de publication
Date de publication:
08 2020
08 2020
Historique:
received:
08
04
2020
revised:
11
06
2020
accepted:
21
06
2020
pubmed:
27
6
2020
medline:
5
10
2021
entrez:
27
6
2020
Statut:
ppublish
Résumé
Telethonin (TCAP) is a Z-disk protein that maintains cytoskeletal integrity and various signaling pathways in cardiomyocytes. TCAP is shown to modulate α-subunit of the human cardiac sodium channel (hNa Mutational analyses for TCAP were performed in 303 Japanese patients with Brugada syndrome, arrhythmogenic right ventricular cardiomyopathy, and J-wave pattern ECG. Using patch-clamp techniques, electrophysiological characteristics of hNa We identified two TCAP variants, c.145G>A:p.E49K and c.458G>A:p.R153H, in four individuals. p.E49K was found in two patients with ARVC or BrS. p.R153H was found in two patients with BrS or J-wave pattern ECG. No patient had variant hNa We found two TCAP variants in the patients with BrS, J-wave pattern ECG, and ARVC that can cause loss-of-function of the hNa
Sections du résumé
BACKGROUND
Telethonin (TCAP) is a Z-disk protein that maintains cytoskeletal integrity and various signaling pathways in cardiomyocytes. TCAP is shown to modulate α-subunit of the human cardiac sodium channel (hNa
METHODS
Mutational analyses for TCAP were performed in 303 Japanese patients with Brugada syndrome, arrhythmogenic right ventricular cardiomyopathy, and J-wave pattern ECG. Using patch-clamp techniques, electrophysiological characteristics of hNa
RESULTS
We identified two TCAP variants, c.145G>A:p.E49K and c.458G>A:p.R153H, in four individuals. p.E49K was found in two patients with ARVC or BrS. p.R153H was found in two patients with BrS or J-wave pattern ECG. No patient had variant hNa
CONCLUSIONS
We found two TCAP variants in the patients with BrS, J-wave pattern ECG, and ARVC that can cause loss-of-function of the hNa
Substances chimiques
Connectin
0
NAV1.5 Voltage-Gated Sodium Channel
0
TCAP protein, human
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
838-846Informations de copyright
© 2020 Wiley Periodicals LLC.
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