磷酸化
心肌肥大
细胞生物学
功能(生物学)
心功能曲线
化学
肌肉肥大
线粒体
基因
病态的
机制(生物学)
作用机理
内科学
小RNA
职位(财务)
基因表达
动作(物理)
内分泌学
心肌
激酶
生物
药理学
信号转导
癌症研究
医学
心力衰竭
对偶(语法数字)
基因表达调控
心肌肥大
心肌保护
心肌细胞
转录因子
磷酸化级联
压力过载
发病机制
激活剂(遗传学)
心脏功能不全
细胞凋亡
作者
Taojun Zhang,Kunlun Yin,Tianjiao Li,Shuiyun Wang,Zhou Zhou
出处
期刊:Circulation
[Wolters Kluwer]
日期:2026-04-14
卷期号:19 (3): e005362-e005362
标识
DOI:10.1161/circgen.125.005362
摘要
BACKGROUND: Hypertrophic cardiomyopathy (HCM) arises from genetic mutations in sarcomere proteins, resulting in major structural abnormalities and limited treatment options. Patients with HCM had reduced expression of the FGF12 (fibroblast growth factor 12), but its precise functional role remains unclear. METHODS: To explore FGF12’s function and interactions, we utilized clustered regularly interspaced short palindromic repeats-Cas9 technology in cardiomyocytes derived from human induced pluripotent stem cells-induced cardiomyocytes, as well as in other cell lines and mouse models (MYH7 R403Q/+ , MYBPC3 c790GtoA/c790GtoA , and transverse aortic constriction models). We transfected HCM or mice model with FGF12-coding sequence and FGF12-ΔNLS plasmids or adeno-associated virus 9 vectors to reduce myocardial hypertrophy. As hypertrophy progressed, we used cleavage under targets and tagmentation) sequencing and AlphaFold3 on myocardial tissues from patients and induced pluripotent stem cells-induced cardiomyocytes. To predict mitochondrial function in cardiomyocytes, we measured mitochondrial Ca 2+ concentrations and reactive oxygen species content. RESULTS: First, we observed a decrease in FGF12 expression and a difference in its subcellular localization in patients with HCM compared with healthy volunteers. In hypertrophic mouse models, injecting adeno-associated virus 9 reduced myocardial hypertrophy. FGF12 binds to calmodulin and inhibits its phosphorylation. This interaction also suppresses the expression and phosphorylation of downstream proteins, including CaMKII, ERK1/2, CREB1, and MCU. The nuclear-localization FGF12 binds to the promoter region of CREB1. FGF12 inhibits the expression of the CREB1-MCU axis expression, leading to reductions in both mitochondrial Ca 2+ concentration and mitochondrial reactive oxygen species. CONCLUSIONS: This study reveals a pathological mechanism associated with HCM linked to FGF12. FGF12, located outside the nucleus, suppresses the expression of metabolism-related genes by reducing the phosphorylation levels within the calmodulin-ERK1/2-CREB1-MCU axis. In contrast, the nuclear localization of FGF12 facilitates its binding to the promoter regions of CREB1, inhibiting CREB1 expression. This dual action maintains cardiomyocyte function and mitochondrial homeostasis. Our findings position FGF12 as a promising therapeutic target for HCM.
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