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ORIGINAL RESEARCH article

Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1423778
This article is part of the Research Topic The Etiology and Pathogenesis of Craniomaxillofacial Birth Defects View all 6 articles

TFE3 and TP53 were novel diagnostic biomarkers related to mitochondrial autophagy in chronic rhinosinusitis with nasal polyps

Provisionally accepted
Ning Wang Ning Wang 1,2Ying Yuan Ying Yuan 1,2Yanjun Jia Yanjun Jia 3,4Yue Han Yue Han 1,2Xuemin Yu Xuemin Yu 1,2Ying Fu Ying Fu 1,2Xiao Li Xiao Li 1,2*
  • 1 Qilu Hospital of Shandong University (Qingdao), Qingdao, China
  • 2 Department of Otolaryngology-Head and Neck Surgery, Qilu Hospital of Shandong University (Qingdao), Qingdao, China
  • 3 Qingdao Central Hospital, Qingdao, Shandong Province, China
  • 4 Department of Otolaryngology-Head and Neck Surgery, Qingdao Central Hospital, Qingdao, Shandong Province, China

The final, formatted version of the article will be published soon.

    Background: Chronic rhinosinusitis with nasal polyps (CRSwNP) belongs to a subtype of Chronic rhinosinusitis (CRS), which is a heterogeneous inflammatory condition. It has been reported that mitophagy may provide a new therapeutic option for CRSwNP. Methods: The GSE136825 (training dataset) and GSE179265 (validation dataset) were scoured from the Gene Expression Omnibus (GEO) database. The candidate genes related to mitophagy were identified by differential expression analysis. Subsequently, the biomarkers were selected from the machine learning, Receiver Operating Characteristic (ROC) curves, and expression level verification. A backpropagation (BP) neural network was generated to evaluate the diagnostic ability of biomarkers. In addition, the infiltration abundance of immune cells, potential drugs, and related ear-nose-throat (ENT) diseases were analyzed based on the biomarkers. Finally, qPCR analysis was performed to verify these biomarkers. Results: A total of 8 candidate genes were identified by overlapping 3,400 different expression genes (DEGs) and 72 mitophagy-related genes (MRGs). Subsequently, TFE3 and TP53 were identified as biomarkers of CRSwNP, and the area under the curves (AUC) of the BP neural network was 0.74, which indicated that the biomarkers had excellent abilities. TFE3 and TP53 were co-enriched in the cancer pathway, cell cycle, endocytosis, etc. What's more, Macrophage and Immature dendritic cells had significant correlations with biomarkers. The drugs (Doxorubicin, Tetrachlorodibenzodioxin, etc.) and the ENT diseases (hearing loss, sensorineural, tinnitus, etc.) related to biomarkers were predicted. Ultimately, qPCR results showed that the expression levels of TFE3 and TP53 in polyp tissue of CRSwNP were increased. Conclusion: Overall, TFE3 and TP53 could be used as biomarkers or potential therapeutic targets to diagnose and treat CRSwNP.

    Keywords: chronic rhinosinusitis with nasal polyps, Mitochondrial autophagy, biomarkers, TFE3, TP53

    Received: 26 Apr 2024; Accepted: 28 Aug 2024.

    Copyright: © 2024 Wang, Yuan, Jia, Han, Yu, Fu and Li. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Xiao Li, Qilu Hospital of Shandong University (Qingdao), Qingdao, China

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