Isogenic human pluripotent stem cell disease models reveal ABRA deficiency underlies cTnT mutation-induced familial dilated cardiomyopathy

作     者：Bin Li Yongkun Zhan Qianqian Liang Chen Xu Xinyan Zhou Huanhuan Cai Yufan Zheng Yifan Guo Lei Wang Wenqing Qiu Baiping Cui Chao Lu Ruizhe Qian Ping Zhou Haiyan Chen Yun Liu Sifeng Chen Xiaobo Li Ning Sun 

作者机构：Department of Physiology and PathophysiologyState Key Laboratory of Medical NeurobiologySchool of Basic Medical SciencesFudan UniversityShanghai 200032China Shanghai Institute of Precision MedicineNinth People's HospitalShanghai Jiao Tong University School of MedicineShanghai 200025China Shanghai Key Lab of Birth DefectChildren's Hospital of Fudan UniversityShanghai 201102China Shanghai Key Laboratory of Clinical Geriatric MedicineResearch Center on Aging and MedicineFudan UniversityShanghai 200032China Department of EchocardiographyZhongshan HospitalFudan UniversityShanghai 200032China Department of BiochemistrySchool of Basic Medical SciencesFudan UniversityShanghai 200032China 

出 版 物：《Protein & Cell》 (蛋白质与细胞（英文版）)

年 卷 期：2022年第13卷第1期

页      面：65-71页

核心收录：

学科分类：0710[理学-生物学] 1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

基　　金：supported by the National Natural Science Foundation of China(NSFC) the Postdoctoral Science Foundation the Young Elite Scientist Sponsorship Program by CAST the Haiju program of National Children's Medical Center the National Key R&D Program of China 

主　　题：cardiomyopathy familial 

摘      要：Dear Editor,Dilated cardiomyopathy(DCM)is a common form of inherited *** the past decades,single mutations in various genes encoding sarcomeric,cytoskeletal,and channel proteins *** been found to be associated with DCM(Hershberger et al.,2013;McNally and Mestroni,2017).However,the mechanisms how single mutations in sarcomeric or structural genes lead to the disease remain *** interesting phenomenon often seen in familial cardiomyopathy is that different single mutations on the same gene can cause either DCM or hypertrophic cardiomyopathy(HCM)(Kathiresan and Srivastava,2012),which exhibit almost opposite disease *** is characterized by thinned myocardium and septum,ventricular chamber dilation,and systolic dysfunction(Jefferies and Towbin,2010;McNally and Mestroni,2017),while HCM exhibits thickened myocardium and septum,reduced ventricular chamber,and diastolic dysfunction(Richard et al.,2003).At the cellular level,HCM cardiomyocytes exhibit concentric hypertrophy characterized by assembly of myofilaments in parallel and widening of the *** contrast,DCM cardiomyocytes show eccentric hypertrophy,with assembly of the myofilaments in series and myocyte elongation(Kehat and Molkentin,2010).