[1]陈 成,苏丹艳,覃素元,等.FKTN突变扩张型心肌病相关基因的生物信息学分析[J].医学信息,2025,38(09):8-13.[doi:10.3969/j.issn.1006-1959.2025.09.002]
　CHEN Cheng,SU Danyan,QIN Suyuan,et al.Bioinformatics Analysis of FKTN Mutant Dilated Cardiomyopathy Related Genes[J].Journal of Medical Information,2025,38(09):8-13.[doi:10.3969/j.issn.1006-1959.2025.09.002]
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FKTN突变扩张型心肌病相关基因的生物信息学分析()
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医学信息[ISSN:1006-1959/CN:61-1278/R]

卷:
38卷
期数:
2025年09期
页码:
8-13
栏目:
生物信息学
出版日期:
2025-05-01

文章信息/Info

Title:
Bioinformatics Analysis of FKTN Mutant Dilated Cardiomyopathy Related Genes
文章编号:
1006-1959（2025）09-0008-06
作者:
陈 成; 苏丹艳; 覃素元; 黄钰钦; 叶冰冰; 黄滟云; 庞玉生
广西医科大学第一附属医院儿科，广西 南宁 530021
Author(s):
CHEN Cheng;  SU Danyan;  QIN Suyuan;  HUANG Yuqin;  YE Bingbing;  HUANG Yanyun;  PANG Yusheng
Department of Pediatrics, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021, Guangxi, China
关键词:
扩张型心肌病; 基因检测; FKTN; 生物信息学
Keywords:
Dilated cardiomyopathy;  Genetic testing;  FKTN;  Bioinformatics
分类号:
R542.2
DOI:
10.3969/j.issn.1006-1959.2025.09.002
文献标志码:
A
摘要:
目的 探讨FKTN基因突变在扩张型心肌病的致病机制。方法 在Gene Expression Omnibus数据库下载与FKTN相关的GSE138280基因表达谱，对该表达谱FKTN基因突变心肌组织及正常心肌组织的表达进行差异分析，并使用热图R包来呈现FKTN基因突变心肌组织的差异表达基因，进一步通过差异表达基因的富集分析来寻找富集通路，在富集通路上利用蛋白互作网络分析，寻找FKTN基因突变心肌组织的关键通路蛋白，寻找其致病机制及治疗靶点。结果 FKTN基因生物信息学分析中，与健康对照组相比，FKTN突变组鉴定出5636个差异表达基因，其中2630个上调，3006个下调。在上调基因中，GO分析发现主要集中在炎症反应、细胞外基质胶原纤维增殖方面，KEGG通路分析发现主要富集在细胞因子-细胞因子受体的相互作用、白介素17信号通路、肿瘤坏死因子信号通路、趋化因子信号通路、P53信号通路及细胞外基质受体相互作用，蛋白质互作网络分析发现关键的节点基因有Fn1、CD44、Kif18a、CXC、Saa3；在下调基因中，GO分析发现主要集中在钙的转运、心肌收缩、内质网、肌小节、微管、蛋白糖基化，KEGG通路分析发现主要富集在心肌收缩、扩张型心肌病、钙信号通路，蛋白质互作网络分析发现关键的节点基因有Asb15、Efcab2。结论 FKTN突变DCM小鼠的发病机制可能与心肌细胞内钙稳态、心肌细胞炎症、微管异常、细胞外基质增生有关。
Abstract:
Objective To investigate the pathogenic mechanism of FKTN gene mutation in dilated cardiomyopathy. Methods The GSE138280 gene expression profile related to FKTN was downloaded from the Gene Expression Omnibus database, and the differential expression of FKTN gene mutation myocardial tissue and normal myocardial tissue was analyzed. The heatmap R package was used to display the differentially expressed genes in the FKTN gene mutant myocardial tissue, and further enrichment analysis of the differentially expressed genes was performed to find the enrichment pathways. Protein interaction network analysis was used to find the key pathway proteins in the FKTN gene mutant myocardial tissue, and to find its pathogenic mechanism and therapeutic targets. Results Bioinformatics analysis of FKTN gene showed that compared with the healthy control group, 5636 differentially expressed genes were identified in the FKTN mutation group, of which 2630 were up-regulated and 3006 were down-regulated. Among the up-regulated genes, GO analysis found that it was mainly concentrated in inflammatory response and extracellular matrix collagen fiber proliferation. KEGG pathway analysis found that they were mainly enriched in the interaction of cytokine-cytokine receptor, interleukin-17 signaling pathway, tumor necrosis factor signaling pathway, chemokine signaling pathway, P53 signaling pathway and extracellular matrix receptor interaction. Protein interaction network analysis found that the key node genes were Fn1, CD44, Kif18a, CXC, Saa3; among the down-regulated genes, GO analysis found that they were mainly concentrated in calcium transport, myocardial contraction, endoplasmic reticulum, sarcomere, microtubule and protein glycosylation. KEGG pathway analysis found that they were mainly concentrated in myocardial contraction, dilated cardiomyopathy and calcium signaling pathway. Protein interaction network analysis found that the key node genes were Asb15 and Efcab2. Conclusion The pathogenesis of mice with FKTN mutation-related DCM may be related to intracardiac calcium homeostasis, cardiomyocyte inflammation, microtubule abnormalities, and extracellular matrix hyperplasia.

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更新日期/Last Update: 1900-01-01