LMNA c.929A > G突变与扩张型心肌病的 相关性研究
Association of the LMNA c.929A > G Mutation with Dilated Cardiomyopathy
DOI: 10.12677/acm.2026.162590, PDF,   
作者: 韩子康, 盛勇皓, 孙 菡, 孙萌辰：青岛大学临床医学院，山东 青岛；烟台毓璜顶医院心血管内科，山东 烟台；董海斌, 龚 磊, 王春筱, 王广强*, 仲 琳*：烟台毓璜顶医院心血管内科，山东 烟台
关键词: 扩张型心肌病；LMNA基因突变；心肌细胞肥大；Dilated Cardiomyopathy； LMNA Mutation； Cardiomyocyte Hypertrophy
摘要: 目的：对扩张型心肌病患者携带的LMNA基因突变进行鉴定，并对该突变对AC16细胞的作用和机理进行了探究。方法：通过基因测序明确扩张型心肌病患者的致病基因及突变位点；采用心电图(ECG)及超声心动图评估患者心功能。构建携带突变的质粒并转染至AC16心肌细胞后，通过鬼笔环肽染色检测心肌细胞面积，实时荧光定量聚合酶链反应(RT-qPCR)检测心房钠尿肽(ANP)及脑钠尿肽(BNP)的表达水平。结果：LMNA c.929A > G突变被确定为该患者的致病变异。这种突变导致肥大相关基因ANP、BNP的上调，心肌细胞大小增加。结论：LMNA c.929A > G基因突变可能是DCM的致病因素，具有特异性和临床表型，该突变可诱导心肌细胞肥大。
Abstract: Objective: To identify the LMNA gene mutation harbored by a patient with Dilated Cardiomyopathy (DCM), and to investigate the effects and underlying mechanisms of this mutation on AC-16 cells. Methods: Pathogenic genes and mutation sites in patients with DCM were identified by gene sequencing, and cardiac function was assessed using Electrocardiography (ECG) and echocardiography. Plasmids harboring the LMNA c.929A > G mutation were constructed and transfected into cardiomyocytes. Cardiomyocyte area was evaluated by phalloidin staining; ANP and BNP expression levels were quantified by RT-qPCR; Results: The LMNA c.929A > G mutation was identified as the pathogenic variant in this patient. This mutation resulted in the upregulation of hypertrophy-related genes ANP and BNP, an increase in cardiomyocyte size. Conclusion: The LMNA c.929A > G mutation may serve as a pathogenic factor for dilated cardiomyopathy, exhibiting specificity and distinct clinical phenotypes. This mutation induces cardiomyocyte hypertrophy.
文章引用：韩子康, 盛勇皓, 孙菡, 孙萌辰, 董海斌, 龚磊, 王春筱, 王广强, 仲琳. LMNA c.929A > G突变与扩张型心肌病的 相关性研究 [J]. 临床医学进展, 2026, 16(2): 1950-1958. https://doi.org/10.12677/acm.2026.162590

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