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Biomedicines
Volume 10
Issue 7
10.3390/biomedicines10071714
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Communication

Whole-Exome Sequencing of Bronchial Epithelial Cells Reveals a Genetic Print of Airway Remodelling in COPD

by
Adeline Germain
1,
Jeanne-Marie Perotin
1,2,
Gonzague Delepine
1,3,
Myriam Polette
1,4,
Gaëtan Deslée
1,2 and
Valérian Dormoy
1,*
1
Inserm, P3Cell UMR-S1250, Université de Reims Champagne-Ardenne, SFR CAP-SANTE, 51092 Reims, France
2
Service de Pneumologie, CHU Reims, Hôpital Maison Blanche, 51092 Reims, France
3
Service de Chirurgie Thoracique, CHU Reims, Hôpital Maison Blanche, 51092 Reims, France
4
Laboratoire de Biopathologie, CHU Reims, Hôpital Maison Blanche, 51092 Reims, France
*
Author to whom correspondence should be addressed.
Biomedicines 2022, 10(7), 1714; https://doi.org/10.3390/biomedicines10071714
Submission received: 16 June 2022 / Revised: 12 July 2022 / Accepted: 13 July 2022 / Published: 15 July 2022
(This article belongs to the Special Issue Advances in Genetic Research of Chronic Obstructive Pulmonary Disease(COPD))
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Abstract

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.
Keywords: whole-exome sequencing; airway epithelial cells; COPD whole-exome sequencing; airway epithelial cells; COPD

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MDPI and ACS Style

Germain, A.; Perotin, J.-M.; Delepine, G.; Polette, M.; Deslée, G.; Dormoy, V. Whole-Exome Sequencing of Bronchial Epithelial Cells Reveals a Genetic Print of Airway Remodelling in COPD. Biomedicines 2022, 10, 1714. https://doi.org/10.3390/biomedicines10071714

AMA Style

Germain A, Perotin J-M, Delepine G, Polette M, Deslée G, Dormoy V. Whole-Exome Sequencing of Bronchial Epithelial Cells Reveals a Genetic Print of Airway Remodelling in COPD. Biomedicines. 2022; 10(7):1714. https://doi.org/10.3390/biomedicines10071714

Chicago/Turabian Style

Germain, Adeline, Jeanne-Marie Perotin, Gonzague Delepine, Myriam Polette, Gaëtan Deslée, and Valérian Dormoy. 2022. "Whole-Exome Sequencing of Bronchial Epithelial Cells Reveals a Genetic Print of Airway Remodelling in COPD" Biomedicines 10, no. 7: 1714. https://doi.org/10.3390/biomedicines10071714

APA Style

Germain, A., Perotin, J.-M., Delepine, G., Polette, M., Deslée, G., & Dormoy, V. (2022). Whole-Exome Sequencing of Bronchial Epithelial Cells Reveals a Genetic Print of Airway Remodelling in COPD. Biomedicines, 10(7), 1714. https://doi.org/10.3390/biomedicines10071714

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