Isogenic human pluripotent stem cell disease models reveal ABRA deficiency underlies cTnT mutation-induced familial dilated cardiomyopathy.
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ABSTRACT:
SUBMITTER: Li B
PROVIDER: S-EPMC8776971 | biostudies-literature | 2022 Jan
REPOSITORIES: biostudies-literature
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Isogenic human pluripotent stem cell disease models reveal ABRA deficiency underlies cTnT mutation-induced familial dilated cardiomyopathy.
Li Bin B Zhan Yongkun Y Liang Qianqian Q Xu Chen C Zhou Xinyan X Cai Huanhuan H Zheng Yufan Y Guo Yifan Y Wang Lei L Qiu Wenqing W Cui Baiping B Lu Chao C Qian Ruizhe R Zhou Ping P Chen Haiyan H Liu Yun Y Chen Sifeng S Li Xiaobo X Sun Ning N
Protein & cell 20210422 1
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Project description:The cTnT-DK210 DCM mice showed ABRA protein deficiency, sarcomeric disruption, and compromised heart contractility. Heart-specific expression of ABRA in cTnT-DK210 mice restored sarcomeric structures, reversed the disease progress, and rescued the DCM phenotypes. ABRA deficiency and compromised downstream serum response factor-regulated muscle gene expression play a key role in familial DCM caused by the cTnT-DK210 mutation. ABRA is a good therapeutic gene for cTnT-DK210-induced DCM and could be translated to other cTnT mutations-induced familial DCM.
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