Huang Fang, Li Shujuan, Zhang Ailei, Zhao Jihuai, Zhang Shaoqiang, Liu Dongwei, Chen Wei
Department of Cardiology, Qingdao West Coast New Area People's Hospital, Cardiovascular Internal Medicine, Qingdao, Shandong, China.
Medicine (Baltimore). 2025 Feb 28;104(9):e41525. doi: 10.1097/MD.0000000000041525.
This study aims to investigate the role of ferroptosis in hypertrophic cardiomyopathy (HCM), a genetic disorder characterized by abnormal thickening of the heart muscle. The objective is to identify differentially expressed genes associated with ferroptosis in HCM and understand the potential molecular mechanisms underlying the disease.
Comprehensive genomic analysis was conducted to identify differentially expressed genes associated with ferroptosis in HCM. The analysis focused on TFRC, SCD, SLC2A1, EGR1, GDF15, SNCA, PLIN2, and NQO1 as hub genes regulating ferroptosis. Functional enrichment analysis was performed to uncover their involvement in pathways such as ferroptosis, ubiquinone biosynthesis, and HIF-1 signaling. In addition, immune cell infiltration patterns in HCM were explored, and associations between the hub genes and immune infiltration were identified.
The analysis revealed TFRC, SCD, SLC2A1, EGR1, GDF15, SNCA, PLIN2, and NQO1 as hub genes involved in the regulation of ferroptosis in HCM. Functional enrichment analysis indicated their contribution to key pathways related to ferroptosis, ubiquinone biosynthesis, and HIF-1 signaling. Furthermore, associations between the hub genes and immune infiltration in HCM were observed.
This study provides valuable insights into the molecular basis of HCM by identifying differentially expressed genes associated with ferroptosis. The findings suggest potential molecular mechanisms underlying the development of HCM. These findings contribute to a better understanding of HCM and may pave the way for the development of targeted therapies and improved diagnostic approaches for this debilitating cardiac disorder.
本研究旨在探讨铁死亡在肥厚型心肌病（HCM）中的作用，肥厚型心肌病是一种以心肌异常增厚为特征的遗传性疾病。目的是鉴定与肥厚型心肌病中铁死亡相关的差异表达基因，并了解该疾病潜在的分子机制。
进行全面的基因组分析，以鉴定与肥厚型心肌病中铁死亡相关的差异表达基因。分析聚焦于TFRC、SCD、SLC2A1、EGR1、GDF15、SNCA、PLIN2和NQO1等作为调节铁死亡的枢纽基因。进行功能富集分析，以揭示它们参与铁死亡、泛醌生物合成和HIF-1信号传导等途径。此外，还探讨了肥厚型心肌病中的免疫细胞浸润模式，并确定了枢纽基因与免疫浸润之间的关联。
分析显示TFRC、SCD、SLC2A1、EGR1、GDF15、SNCA、PLIN2和NQO1是参与肥厚型心肌病中铁死亡调节的枢纽基因。功能富集分析表明它们对与铁死亡、泛醌生物合成和HIF-1信号传导相关的关键途径有贡献。此外，还观察到了肥厚型心肌病中枢纽基因与免疫浸润之间的关联。
本研究通过鉴定与铁死亡相关的差异表达基因，为肥厚型心肌病的分子基础提供了有价值的见解。这些发现提示了肥厚型心肌病发展的潜在分子机制。这些发现有助于更好地理解肥厚型心肌病，并可能为这种使人衰弱的心脏疾病的靶向治疗和改进诊断方法的开发铺平道路。
