Scholarlink

<p>Primary Immune Thrombocytopenia (ITP) is an autoimmune disease characterized by thrombocytopenia and bleeding tendency. Exosomes mediate abnormal crosstalk between immune cells and megakaryocytes in ITP, suggesting that exosome-related genes may serve as potential candidates for understanding disease pathogenesis. ITP transcriptome data and exosome-related genes (ERGs) were retrieved from public databases. Potential candidate genes were preliminarily identified by intersecting ITP’s differentially expressed genes (DEGs) with exosome-related key module genes, followed by exploratory screening via machine learning and the construction of a preliminary predictive model. Multi-dimensional analyses (enrichment, immune infiltration [subsequently removed due to methodological concerns], drug prediction) and RT-qPCR validation were performed. Four candidate genes (GABARAPL1, SLC39A14, HIBADH, GSR) were identified through bioinformatic analysis, involved in spliceosome and other pathways (<i>P</i> &lt; 0.05, |NES| &gt; 1). GABARAPL1, SLC39A14, and HIBADH showed exploratory correlations with specific functional T-cell subsets (|cor| &gt; 0.3, <i>P</i> &lt; 0.05). Molecular docking simulations suggested potential binding feasibility between SLC39A14/nortriptyline and GSR/oxiglutatione (binding free energy &lt; -5&#xa0;kcal/mol). RT-qPCR confirmed the significant downregulation of GABARAPL1, SLC39A14, and GSR in ITP patients (<i>P</i> &lt; 0.05), while HIBADH did not show statistically significant changes (<i>P</i> &gt; 0.05). In this exploratory study, GABARAPL1, SLC39A14, and GSR were identified as potential candidate biomarkers with experimental support from clinical samples. HIBADH, while predicted by bioinformatic analysis, requires further investigation to determine its clinical relevance. These findings provide exploratory insights and a preliminary basis for future hypothesis-driven research on the role of exosome-related genes in ITP.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Exploring exosome-related genes as candidate biomarkers in primary immune thrombocytopenia through transcriptomics and preliminary experimental validation

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年3月20日

查看全文
  • Fangfang Lou,
  • Zhiyue Chen,
  • Zihao Yuan,
  • Jie Peng,
  • Jiangyu Sun,
  • Ping Huang,
  • Zesong Yang

摘要

Primary Immune Thrombocytopenia (ITP) is an autoimmune disease characterized by thrombocytopenia and bleeding tendency. Exosomes mediate abnormal crosstalk between immune cells and megakaryocytes in ITP, suggesting that exosome-related genes may serve as potential candidates for understanding disease pathogenesis. ITP transcriptome data and exosome-related genes (ERGs) were retrieved from public databases. Potential candidate genes were preliminarily identified by intersecting ITP’s differentially expressed genes (DEGs) with exosome-related key module genes, followed by exploratory screening via machine learning and the construction of a preliminary predictive model. Multi-dimensional analyses (enrichment, immune infiltration [subsequently removed due to methodological concerns], drug prediction) and RT-qPCR validation were performed. Four candidate genes (GABARAPL1, SLC39A14, HIBADH, GSR) were identified through bioinformatic analysis, involved in spliceosome and other pathways (P < 0.05, |NES| > 1). GABARAPL1, SLC39A14, and HIBADH showed exploratory correlations with specific functional T-cell subsets (|cor| > 0.3, P < 0.05). Molecular docking simulations suggested potential binding feasibility between SLC39A14/nortriptyline and GSR/oxiglutatione (binding free energy < -5 kcal/mol). RT-qPCR confirmed the significant downregulation of GABARAPL1, SLC39A14, and GSR in ITP patients (P < 0.05), while HIBADH did not show statistically significant changes (P > 0.05). In this exploratory study, GABARAPL1, SLC39A14, and GSR were identified as potential candidate biomarkers with experimental support from clinical samples. HIBADH, while predicted by bioinformatic analysis, requires further investigation to determine its clinical relevance. These findings provide exploratory insights and a preliminary basis for future hypothesis-driven research on the role of exosome-related genes in ITP.