The underlying molecular mechanism of ciliated epithelium dysfunction and TGF-β signaling in children with congenital pulmonary airway malformations
Abstract The aim of this study was to investigate the variation in gene expression in the complete transcripts of Congenitalpulmonary airwaymalformation (CPAM) of the lung using Next Generation Sequencing (NGS) technology. There were 20 cases involving children with CPAM were used for selection of s...
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Nature Portfolio
2024-02-01
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| Series: | Scientific Reports |
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| Online Access: | https://doi.org/10.1038/s41598-024-54924-x |
| _version_ | 1827327891082313728 |
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| author | Gang Zhang Lei Lou Linghui Shen Huiyi Zeng Chun Cai Rongde Wu Dandan Liu |
| author_facet | Gang Zhang Lei Lou Linghui Shen Huiyi Zeng Chun Cai Rongde Wu Dandan Liu |
| author_sort | Gang Zhang |
| collection | DOAJ |
| description | Abstract The aim of this study was to investigate the variation in gene expression in the complete transcripts of Congenitalpulmonary airwaymalformation (CPAM) of the lung using Next Generation Sequencing (NGS) technology. There were 20 cases involving children with CPAM were used for selection of study sample. NGS was used to establish RNA-Seq libraries for the two groups of samples separately, and both groups were conducted to differential expression analysis and Gene Ontology (GO) functional enrichment analysis. The pathways of the differential genes were analyzed to find the enriched target pathways. A total of 592 genes were expressed with significant differences (CPAM vs. normal tissue, P < 0.05). GO functional analysis of DEGs indicated that abnormal ciliary function played a role in the development of CPAM. Subsequently, analysis of these genes pathways showed the TGF-β signaling pathway was significantly enriched. Finally, the results of immunohistochemical analysis of some DEGs showed that a significant reduction in the expression of SMAD6, a gene related to the TGF-β signaling pathway, led to abnormal activation of the pathway. TGF-β signaling pathway involved in the evolution of the disease obtained by DEGs enrichment pathway analysis. SMAD6, a gene involved in this pathway, might be a potential biomarker for the diagnosis and treatment of CPAM. |
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| id | doaj.art-4516c9fa0bef41a7873a0b524b4b0211 |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-03-07T15:08:58Z |
| publishDate | 2024-02-01 |
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| spelling | doaj.art-4516c9fa0bef41a7873a0b524b4b02112024-03-05T18:45:46ZengNature PortfolioScientific Reports2045-23222024-02-0114111010.1038/s41598-024-54924-xThe underlying molecular mechanism of ciliated epithelium dysfunction and TGF-β signaling in children with congenital pulmonary airway malformationsGang Zhang0Lei Lou1Linghui Shen2Huiyi Zeng3Chun Cai4Rongde Wu5Dandan Liu6Department of Pediatric Surgery, Shandong Provincial Hospital, Shandong UniversityDepartment of Pediatric Surgery, The Third Affiliated Hospital of Guangzhou Medical UniversityDepartment of Pediatric Surgery, The Third Affiliated Hospital of Guangzhou Medical UniversityDepartment of Pediatric Surgery, The Third Affiliated Hospital of Guangzhou Medical UniversityDepartment of Pediatric Surgery, The Third Affiliated Hospital of Guangzhou Medical UniversityDepartment of Pediatric Surgery, Shandong Provincial Hospital, Shandong UniversityDepartment of Fetal Medicine and Prenatal Diagnosis, The Third Affiliated Hospital of Guangzhou Medical UniversityAbstract The aim of this study was to investigate the variation in gene expression in the complete transcripts of Congenitalpulmonary airwaymalformation (CPAM) of the lung using Next Generation Sequencing (NGS) technology. There were 20 cases involving children with CPAM were used for selection of study sample. NGS was used to establish RNA-Seq libraries for the two groups of samples separately, and both groups were conducted to differential expression analysis and Gene Ontology (GO) functional enrichment analysis. The pathways of the differential genes were analyzed to find the enriched target pathways. A total of 592 genes were expressed with significant differences (CPAM vs. normal tissue, P < 0.05). GO functional analysis of DEGs indicated that abnormal ciliary function played a role in the development of CPAM. Subsequently, analysis of these genes pathways showed the TGF-β signaling pathway was significantly enriched. Finally, the results of immunohistochemical analysis of some DEGs showed that a significant reduction in the expression of SMAD6, a gene related to the TGF-β signaling pathway, led to abnormal activation of the pathway. TGF-β signaling pathway involved in the evolution of the disease obtained by DEGs enrichment pathway analysis. SMAD6, a gene involved in this pathway, might be a potential biomarker for the diagnosis and treatment of CPAM.https://doi.org/10.1038/s41598-024-54924-xCongenital pulmonary malformationRNA-SeqSMAD6TGF-β |
| spellingShingle | Gang Zhang Lei Lou Linghui Shen Huiyi Zeng Chun Cai Rongde Wu Dandan Liu The underlying molecular mechanism of ciliated epithelium dysfunction and TGF-β signaling in children with congenital pulmonary airway malformations Scientific Reports Congenital pulmonary malformation RNA-Seq SMAD6 TGF-β |
| title | The underlying molecular mechanism of ciliated epithelium dysfunction and TGF-β signaling in children with congenital pulmonary airway malformations |
| title_full | The underlying molecular mechanism of ciliated epithelium dysfunction and TGF-β signaling in children with congenital pulmonary airway malformations |
| title_fullStr | The underlying molecular mechanism of ciliated epithelium dysfunction and TGF-β signaling in children with congenital pulmonary airway malformations |
| title_full_unstemmed | The underlying molecular mechanism of ciliated epithelium dysfunction and TGF-β signaling in children with congenital pulmonary airway malformations |
| title_short | The underlying molecular mechanism of ciliated epithelium dysfunction and TGF-β signaling in children with congenital pulmonary airway malformations |
| title_sort | underlying molecular mechanism of ciliated epithelium dysfunction and tgf β signaling in children with congenital pulmonary airway malformations |
| topic | Congenital pulmonary malformation RNA-Seq SMAD6 TGF-β |
| url | https://doi.org/10.1038/s41598-024-54924-x |
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