Transcriptomic Analysis Reveals Intrinsic Abnormalities in Endometrial Polyps

Endometrial polyps (EPs) are benign overgrowths of the endometrial tissue lining the uterus, often causing abnormal bleeding or infertility. This study analyzed gene expression differences between EPs and adjacent endometrial tissue to elucidate intrinsic abnormalities promoting pathological overgro...

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Main Authors: Christine Shan-Chi Chiu, Ling-Yu Yeh, Szu-Hua Pan, Sheng-Hsiang Li
Format: Article
Language:English
Published: MDPI AG 2024-02-01
Series:International Journal of Molecular Sciences
Subjects:
Online Access:https://www.mdpi.com/1422-0067/25/5/2557
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author Christine Shan-Chi Chiu
Ling-Yu Yeh
Szu-Hua Pan
Sheng-Hsiang Li
author_facet Christine Shan-Chi Chiu
Ling-Yu Yeh
Szu-Hua Pan
Sheng-Hsiang Li
author_sort Christine Shan-Chi Chiu
collection DOAJ
description Endometrial polyps (EPs) are benign overgrowths of the endometrial tissue lining the uterus, often causing abnormal bleeding or infertility. This study analyzed gene expression differences between EPs and adjacent endometrial tissue to elucidate intrinsic abnormalities promoting pathological overgrowth. RNA sequencing of 12 pairs of EPs and the surrounding endometrial tissue from infertile women revealed 322 differentially expressed genes. Protein–protein interaction network analysis revealed significant alterations in specific signaling pathways, notably Wnt signaling and vascular smooth muscle regulation, suggesting these pathways play critical roles in the pathophysiology of EPs. Wnt-related genes <i>DKK1</i> and <i>DKKL1</i> were upregulated, while <i>GPC3</i>, <i>GREM1</i>, <i>RSPO3</i>, <i>SFRP5</i>, and <i>WNT10B</i> were downregulated. Relevant genes for vascular smooth muscle contraction were nearly all downregulated in EPs, including <i>ACTA2</i>, <i>ACTG2</i>, <i>KCNMB1</i>, <i>KCNMB2</i>, <i>MYL9</i>, <i>PPP1R12B</i>, and <i>TAGLN</i>. Overall, the results indicate fundamental gene expression changes promote EP formation through unrestrained growth signaling and vascular defects. The intrinsic signaling abnormalities likely contribute to clinical symptoms of abnormal uterine bleeding and infertility common in EP patients. This analysis provides molecular insights into abnormal endometrial overgrowth to guide improved diagnostic and therapeutic approaches for this troublesome women’s health condition. Confirmation of expanded cohorts and further investigations into implicated regulatory relationships are warranted.
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spelling doaj.art-d0a1125061d645528000f2a0257171122024-03-12T16:45:26ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672024-02-01255255710.3390/ijms25052557Transcriptomic Analysis Reveals Intrinsic Abnormalities in Endometrial PolypsChristine Shan-Chi Chiu0Ling-Yu Yeh1Szu-Hua Pan2Sheng-Hsiang Li3Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei 100, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, Tamsui District, New Taipei 251, TaiwanGraduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei 100, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, Tamsui District, New Taipei 251, TaiwanEndometrial polyps (EPs) are benign overgrowths of the endometrial tissue lining the uterus, often causing abnormal bleeding or infertility. This study analyzed gene expression differences between EPs and adjacent endometrial tissue to elucidate intrinsic abnormalities promoting pathological overgrowth. RNA sequencing of 12 pairs of EPs and the surrounding endometrial tissue from infertile women revealed 322 differentially expressed genes. Protein–protein interaction network analysis revealed significant alterations in specific signaling pathways, notably Wnt signaling and vascular smooth muscle regulation, suggesting these pathways play critical roles in the pathophysiology of EPs. Wnt-related genes <i>DKK1</i> and <i>DKKL1</i> were upregulated, while <i>GPC3</i>, <i>GREM1</i>, <i>RSPO3</i>, <i>SFRP5</i>, and <i>WNT10B</i> were downregulated. Relevant genes for vascular smooth muscle contraction were nearly all downregulated in EPs, including <i>ACTA2</i>, <i>ACTG2</i>, <i>KCNMB1</i>, <i>KCNMB2</i>, <i>MYL9</i>, <i>PPP1R12B</i>, and <i>TAGLN</i>. Overall, the results indicate fundamental gene expression changes promote EP formation through unrestrained growth signaling and vascular defects. The intrinsic signaling abnormalities likely contribute to clinical symptoms of abnormal uterine bleeding and infertility common in EP patients. This analysis provides molecular insights into abnormal endometrial overgrowth to guide improved diagnostic and therapeutic approaches for this troublesome women’s health condition. Confirmation of expanded cohorts and further investigations into implicated regulatory relationships are warranted.https://www.mdpi.com/1422-0067/25/5/2557endometrial polypsgene expressionWnt signaling pathwayvascular smooth musclefemale infertility
spellingShingle Christine Shan-Chi Chiu
Ling-Yu Yeh
Szu-Hua Pan
Sheng-Hsiang Li
Transcriptomic Analysis Reveals Intrinsic Abnormalities in Endometrial Polyps
International Journal of Molecular Sciences
endometrial polyps
gene expression
Wnt signaling pathway
vascular smooth muscle
female infertility
title Transcriptomic Analysis Reveals Intrinsic Abnormalities in Endometrial Polyps
title_full Transcriptomic Analysis Reveals Intrinsic Abnormalities in Endometrial Polyps
title_fullStr Transcriptomic Analysis Reveals Intrinsic Abnormalities in Endometrial Polyps
title_full_unstemmed Transcriptomic Analysis Reveals Intrinsic Abnormalities in Endometrial Polyps
title_short Transcriptomic Analysis Reveals Intrinsic Abnormalities in Endometrial Polyps
title_sort transcriptomic analysis reveals intrinsic abnormalities in endometrial polyps
topic endometrial polyps
gene expression
Wnt signaling pathway
vascular smooth muscle
female infertility
url https://www.mdpi.com/1422-0067/25/5/2557
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AT lingyuyeh transcriptomicanalysisrevealsintrinsicabnormalitiesinendometrialpolyps
AT szuhuapan transcriptomicanalysisrevealsintrinsicabnormalitiesinendometrialpolyps
AT shenghsiangli transcriptomicanalysisrevealsintrinsicabnormalitiesinendometrialpolyps