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TCAP is shown to modulate α-subunit of the human cardiac sodium channel (hNav 1.5) by direct interactions. Several TCAP variants are found in cardiomyopathies. We sought to investigate whether TCAP variants are associated with arrhythmia syndromes. ", "subitem_description_type": "Abstract"}, {"subitem_description": "Methods:\nMutational 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 hNav 1.5 were studied in HEK-293 cells stably expressing hNav 1.5 and transiently transfected with wild-type (WT) or variant TCAP. ", "subitem_description_type": "Abstract"}, {"subitem_description": "Results:\nWe identified two TCAP variants, c.145G\u003eA:p.E49K and c.458G\u003eA: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 hNav 1.5. Patch-clamp experiments demonstrated that peak sodium currents were significantly reduced in cells expressing p.R153H and p.E49K compared with WT-TCAP (66%, p.R153H; 72%, p.E49K). Voltage dependency of peak IV curve was rightward-shifted by 5 mV in cells expressing p.E49K compared with WT-TCAP. Voltage dependency of activation was not leftward-shifted by p.R153H, while voltage dependency of steady-state inactivation was leftward-shifted by p.E49K. ", "subitem_description_type": "Abstract"}, {"subitem_description": "Conclusions:\nWe 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\u0027 electrophysiological phenotypes. Further studies linking our experimental data to clinical phenotypes are warranted. 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Telethonin variants found in Brugada syndrome, J-wave pattern ECG, and ARVC reduce peak Na v 1.5 currents in HEK-293 cells.
http://hdl.handle.net/10422/00012762
http://hdl.handle.net/10422/00012762680918c1-8c5f-4c50-a478-ced6be051b8a
Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2020-07-22 | |||||
タイトル | ||||||
タイトル | Telethonin variants found in Brugada syndrome, J-wave pattern ECG, and ARVC reduce peak Na v 1.5 currents in HEK-293 cells. | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | ARVC | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | Brugada | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | J-wave syndromes | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | arrhythmias | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | sudden cardiac death | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | telethonin | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
アクセス権 | ||||||
アクセス権 | metadata only access | |||||
アクセス権URI | http://purl.org/coar/access_right/c_14cb | |||||
著者 |
TURKER, Isik
× TURKER, Isik× MAKIYAMA, Takeru× UEYAMA, Takeshi× SHIMIZU, Akihiko× YAMAKAWA, Masaru× CHEN, Peng-Sheng× Vatta, Matte× HORIE, Minoru× TOMOHIKO, Ai |
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著者別名 |
堀江, 稔
× 堀江, 稔 |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | 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 (hNav 1.5) by direct interactions. Several TCAP variants are found in cardiomyopathies. We sought to investigate whether TCAP variants are associated with arrhythmia syndromes. |
|||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | 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 hNav 1.5 were studied in HEK-293 cells stably expressing hNav 1.5 and transiently transfected with wild-type (WT) or variant TCAP. |
|||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | 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 hNav 1.5. Patch-clamp experiments demonstrated that peak sodium currents were significantly reduced in cells expressing p.R153H and p.E49K compared with WT-TCAP (66%, p.R153H; 72%, p.E49K). Voltage dependency of peak IV curve was rightward-shifted by 5 mV in cells expressing p.E49K compared with WT-TCAP. Voltage dependency of activation was not leftward-shifted by p.R153H, while voltage dependency of steady-state inactivation was leftward-shifted by p.E49K. |
|||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | 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 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. |
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書誌情報 |
en : Pacing and clinical electrophysiology : PACE 発行日 2020-06-25 |
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出版者 | ||||||
出版者 | Wiley | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 1540-8159 | |||||
PMID | ||||||
識別子タイプ | PMID | |||||
関連識別子 | 32588437 | |||||
DOI | ||||||
識別子タイプ | DOI | |||||
関連識別子 | https://doi.org/10.1111/pace.13996 | |||||
関連名称 | 10.1111/pace.13996 | |||||
権利 | ||||||
権利情報 | © 2020 Wiley Periodicals LLC. | |||||
資源タイプ | ||||||
内容記述タイプ | Other | |||||
内容記述 | Journal Article |