Whole-Exome Sequencing of Bronchial Epithelial Cells Reveals a Genetic Print of Airway Remodelling in COPD
The remodelling of the airways is a hallmark of chronic obstructive pulmonary disease, but it is highly heterogeneous and erratically distributed in the airways. To assess the genetic print of remodelling in chronic obstructive pulmonary disease (COPD), we performed a comparative whole-exome sequenc...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-07-01
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| Series: | Biomedicines |
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| Online Access: | https://www.mdpi.com/2227-9059/10/7/1714 |
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| author | Adeline Germain Jeanne-Marie Perotin Gonzague Delepine Myriam Polette Gaëtan Deslée Valérian Dormoy |
| author_facet | Adeline Germain Jeanne-Marie Perotin Gonzague Delepine Myriam Polette Gaëtan Deslée Valérian Dormoy |
| author_sort | Adeline Germain |
| collection | DOAJ |
| description | The remodelling of the airways is a hallmark of chronic obstructive pulmonary disease, but it is highly heterogeneous and erratically distributed in the airways. To assess the genetic print of remodelling in chronic obstructive pulmonary disease (COPD), we performed a comparative whole-exome sequencing analysis on microdissected bronchial epithelia. Lung resections from four non-COPD and three COPD subjects (ex-smokers and current smokers) were formalin-fixed paraffin-embedded (FFPE). Non-remodelled and remodelled bronchial epithelia were isolated by laser microdissection. Genomic DNA was captured and sequenced. The comparative quantitative analysis identified a list of 109 genes as having variants in remodelled epithelia and 160 genes as having copy number alterations in remodelled epithelia, mainly in COPD patients. The functional analysis highlighted cilia-associated processes. Therefore, bronchial-remodelled epithelia appeared genetically more altered than non-remodelled epithelia. Characterizing the unique molecular print of airway remodelling in respiratory diseases may help uncover additional factors contributing to epithelial dysfunctions, ultimately providing additional targetable proteins to correct epithelial remodelling and improve lung function. |
| first_indexed | 2024-03-09T03:39:51Z |
| format | Article |
| id | doaj.art-d20311cfa3fa48f0ab53c3bc11b985f2 |
| institution | Directory Open Access Journal |
| issn | 2227-9059 |
| language | English |
| last_indexed | 2024-03-09T03:39:51Z |
| publishDate | 2022-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Biomedicines |
| spelling | doaj.art-d20311cfa3fa48f0ab53c3bc11b985f22023-12-03T14:42:41ZengMDPI AGBiomedicines2227-90592022-07-01107171410.3390/biomedicines10071714Whole-Exome Sequencing of Bronchial Epithelial Cells Reveals a Genetic Print of Airway Remodelling in COPDAdeline Germain0Jeanne-Marie Perotin1Gonzague Delepine2Myriam Polette3Gaëtan Deslée4Valérian Dormoy5Inserm, P3Cell UMR-S1250, Université de Reims Champagne-Ardenne, SFR CAP-SANTE, 51092 Reims, FranceInserm, P3Cell UMR-S1250, Université de Reims Champagne-Ardenne, SFR CAP-SANTE, 51092 Reims, FranceInserm, P3Cell UMR-S1250, Université de Reims Champagne-Ardenne, SFR CAP-SANTE, 51092 Reims, FranceInserm, P3Cell UMR-S1250, Université de Reims Champagne-Ardenne, SFR CAP-SANTE, 51092 Reims, FranceInserm, P3Cell UMR-S1250, Université de Reims Champagne-Ardenne, SFR CAP-SANTE, 51092 Reims, FranceInserm, P3Cell UMR-S1250, Université de Reims Champagne-Ardenne, SFR CAP-SANTE, 51092 Reims, FranceThe remodelling of the airways is a hallmark of chronic obstructive pulmonary disease, but it is highly heterogeneous and erratically distributed in the airways. To assess the genetic print of remodelling in chronic obstructive pulmonary disease (COPD), we performed a comparative whole-exome sequencing analysis on microdissected bronchial epithelia. Lung resections from four non-COPD and three COPD subjects (ex-smokers and current smokers) were formalin-fixed paraffin-embedded (FFPE). Non-remodelled and remodelled bronchial epithelia were isolated by laser microdissection. Genomic DNA was captured and sequenced. The comparative quantitative analysis identified a list of 109 genes as having variants in remodelled epithelia and 160 genes as having copy number alterations in remodelled epithelia, mainly in COPD patients. The functional analysis highlighted cilia-associated processes. Therefore, bronchial-remodelled epithelia appeared genetically more altered than non-remodelled epithelia. Characterizing the unique molecular print of airway remodelling in respiratory diseases may help uncover additional factors contributing to epithelial dysfunctions, ultimately providing additional targetable proteins to correct epithelial remodelling and improve lung function.https://www.mdpi.com/2227-9059/10/7/1714whole-exome sequencingairway epithelial cellsCOPD |
| spellingShingle | Adeline Germain Jeanne-Marie Perotin Gonzague Delepine Myriam Polette Gaëtan Deslée Valérian Dormoy Whole-Exome Sequencing of Bronchial Epithelial Cells Reveals a Genetic Print of Airway Remodelling in COPD Biomedicines whole-exome sequencing airway epithelial cells COPD |
| title | Whole-Exome Sequencing of Bronchial Epithelial Cells Reveals a Genetic Print of Airway Remodelling in COPD |
| title_full | Whole-Exome Sequencing of Bronchial Epithelial Cells Reveals a Genetic Print of Airway Remodelling in COPD |
| title_fullStr | Whole-Exome Sequencing of Bronchial Epithelial Cells Reveals a Genetic Print of Airway Remodelling in COPD |
| title_full_unstemmed | Whole-Exome Sequencing of Bronchial Epithelial Cells Reveals a Genetic Print of Airway Remodelling in COPD |
| title_short | Whole-Exome Sequencing of Bronchial Epithelial Cells Reveals a Genetic Print of Airway Remodelling in COPD |
| title_sort | whole exome sequencing of bronchial epithelial cells reveals a genetic print of airway remodelling in copd |
| topic | whole-exome sequencing airway epithelial cells COPD |
| url | https://www.mdpi.com/2227-9059/10/7/1714 |
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