| Category |
Cardiac & Cardiovascular Systems |
| Manuscript Type |
Basic Study |
| Article Title |
Calcium dysregulation underlies phenotypic diversity in LQT2: Insights from induced pluripotent stem cell-derived cardiomyocytes of a KCNH2 p.Y427H family trio
|
| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Qing Li, Cong-Ting Guo, Jia-Cheng Ren, Yi-Fei Wang, Zi-Juan Zhao, Chang-Hua Lv, Qiu-Yu Wang, Qing Liu, Kun Li, Jing Yang, Rong He, Fu-Lan Liu, Ting-Ting Lv and Ping Zhang |
| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Beijing Hospitals Authority Clinical Medicine Development Special Funding |
ZLRK202518 |
|
| Corresponding Author |
Ting-Ting Lv, Department of Cardiology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, No. 174 Litang Road, Changping District, Beijing 102218, China. lvtingting0616@163.com |
| Key Words |
Congenital long QT syndrome; Induced pluripotent stem cell-derived cardiomyocytes; Precision medicine; Calcium dysregulation; Long QT syndrome type 2 |
| Core Tip |
Using induced pluripotent stem cell-derived cardiomyocytes, we modeled a family with congenital long QT syndrome type 2 caused by a KCNH2 variant to explain why clinical severity differs among carriers. Although both affected individuals showed a reduced rapid delayed rectifier potassium current, only the symptomatic proband exhibited calcium handling abnormalities, increased L-type calcium current, and spontaneous arrhythmias. Pharmacological correction with nifedipine suppressed these arrhythmias. This work highlights calcium dysregulation as a key modifier of disease severity and supports the use of patient-specific induced pluripotent stem cell-derived cardiomyocytes for personalized risk assessment and therapy selection. |
| Citation |
Li Q, Guo CT, Ren JC, Wang YF, Zhao ZJ, Lv CH, Wang QY, Liu Q, Li K, Yang J, He R, Liu FL, Lv TT, Zhang P. Calcium dysregulation underlies phenotypic diversity in LQT2: Insights from induced pluripotent stem cell-derived cardiomyocytes of a KCNH2 p.Y427H family trio. World J Stem Cells 2026; In press |
| ISSN |
1948-0210 (online) |
| Open Access |
This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/ |
| Copyright |
©Author(s) (or their employer(s)) 2026. No commercial re-use. See Permissions. Published by Baishideng Publishing Group Inc. |
| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
|
| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
