A Developmental Role of the Cystic Fibrosis Transmembrane Conductance Regulator in Cystic Fibrosis Lung Disease Pathogenesis
The cystic fibrosis (CF) transmembrane conductance regulator (CFTR) protein is a cAMP-activated anion channel that is critical for regulating fluid and ion transport across the epithelium. This process is disrupted in CF epithelia, and patients harbouring CF-causing mutations experience reduced lung...
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| Format: | Article |
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Frontiers Media S.A.
2021-10-01
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| Series: | Frontiers in Cell and Developmental Biology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fcell.2021.742891/full |
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| author | Elena N. Huang Elena N. Huang Henry Quach Henry Quach Jin-A Lee Joshua Dierolf Theo J. Moraes Theo J. Moraes Amy P. Wong Amy P. Wong |
| author_facet | Elena N. Huang Elena N. Huang Henry Quach Henry Quach Jin-A Lee Joshua Dierolf Theo J. Moraes Theo J. Moraes Amy P. Wong Amy P. Wong |
| author_sort | Elena N. Huang |
| collection | DOAJ |
| description | The cystic fibrosis (CF) transmembrane conductance regulator (CFTR) protein is a cAMP-activated anion channel that is critical for regulating fluid and ion transport across the epithelium. This process is disrupted in CF epithelia, and patients harbouring CF-causing mutations experience reduced lung function as a result, associated with the increased rate of mortality. Much progress has been made in CF research leading to treatments that improve CFTR function, including small molecule modulators. However, clinical outcomes are not necessarily mutation-specific as individuals harboring the same genetic mutation may present with varying disease manifestations and responses to therapy. This suggests that the CFTR protein may have alternative functions that remain under-appreciated and yet can impact disease. In this mini review, we highlight some notable research implicating an important role of CFTR protein during early lung development and how mutant CFTR proteins may impact CF airway disease pathogenesis. We also discuss recent novel cell and animal models that can now be used to identify a developmental cause of CF lung disease. |
| first_indexed | 2024-12-22T08:34:22Z |
| format | Article |
| id | doaj.art-6e7090240eb14651a4040b522f531780 |
| institution | Directory Open Access Journal |
| issn | 2296-634X |
| language | English |
| last_indexed | 2024-12-22T08:34:22Z |
| publishDate | 2021-10-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cell and Developmental Biology |
| spelling | doaj.art-6e7090240eb14651a4040b522f5317802022-12-21T18:32:24ZengFrontiers Media S.A.Frontiers in Cell and Developmental Biology2296-634X2021-10-01910.3389/fcell.2021.742891742891A Developmental Role of the Cystic Fibrosis Transmembrane Conductance Regulator in Cystic Fibrosis Lung Disease PathogenesisElena N. Huang0Elena N. Huang1Henry Quach2Henry Quach3Jin-A Lee4Joshua Dierolf5Theo J. Moraes6Theo J. Moraes7Amy P. Wong8Amy P. Wong9Program in Developmental and Stem Cell Biology, Hospital for Sick Children, Toronto, ON, CanadaDepartment of Laboratory Medicine & Pathobiology, University of Toronto, Toronto, ON, CanadaProgram in Developmental and Stem Cell Biology, Hospital for Sick Children, Toronto, ON, CanadaDepartment of Laboratory Medicine & Pathobiology, University of Toronto, Toronto, ON, CanadaProgram in Developmental and Stem Cell Biology, Hospital for Sick Children, Toronto, ON, CanadaProgram in Developmental and Stem Cell Biology, Hospital for Sick Children, Toronto, ON, CanadaDepartment of Laboratory Medicine & Pathobiology, University of Toronto, Toronto, ON, CanadaProgram in Translational Medicine, Hospital for Sick Children, Toronto, ON, CanadaProgram in Developmental and Stem Cell Biology, Hospital for Sick Children, Toronto, ON, CanadaDepartment of Laboratory Medicine & Pathobiology, University of Toronto, Toronto, ON, CanadaThe cystic fibrosis (CF) transmembrane conductance regulator (CFTR) protein is a cAMP-activated anion channel that is critical for regulating fluid and ion transport across the epithelium. This process is disrupted in CF epithelia, and patients harbouring CF-causing mutations experience reduced lung function as a result, associated with the increased rate of mortality. Much progress has been made in CF research leading to treatments that improve CFTR function, including small molecule modulators. However, clinical outcomes are not necessarily mutation-specific as individuals harboring the same genetic mutation may present with varying disease manifestations and responses to therapy. This suggests that the CFTR protein may have alternative functions that remain under-appreciated and yet can impact disease. In this mini review, we highlight some notable research implicating an important role of CFTR protein during early lung development and how mutant CFTR proteins may impact CF airway disease pathogenesis. We also discuss recent novel cell and animal models that can now be used to identify a developmental cause of CF lung disease.https://www.frontiersin.org/articles/10.3389/fcell.2021.742891/fullstem cellsdisease modelinglung development and pulmonary diseasesWnt/β-catenincystic fibrosis |
| spellingShingle | Elena N. Huang Elena N. Huang Henry Quach Henry Quach Jin-A Lee Joshua Dierolf Theo J. Moraes Theo J. Moraes Amy P. Wong Amy P. Wong A Developmental Role of the Cystic Fibrosis Transmembrane Conductance Regulator in Cystic Fibrosis Lung Disease Pathogenesis Frontiers in Cell and Developmental Biology stem cells disease modeling lung development and pulmonary diseases Wnt/β-catenin cystic fibrosis |
| title | A Developmental Role of the Cystic Fibrosis Transmembrane Conductance Regulator in Cystic Fibrosis Lung Disease Pathogenesis |
| title_full | A Developmental Role of the Cystic Fibrosis Transmembrane Conductance Regulator in Cystic Fibrosis Lung Disease Pathogenesis |
| title_fullStr | A Developmental Role of the Cystic Fibrosis Transmembrane Conductance Regulator in Cystic Fibrosis Lung Disease Pathogenesis |
| title_full_unstemmed | A Developmental Role of the Cystic Fibrosis Transmembrane Conductance Regulator in Cystic Fibrosis Lung Disease Pathogenesis |
| title_short | A Developmental Role of the Cystic Fibrosis Transmembrane Conductance Regulator in Cystic Fibrosis Lung Disease Pathogenesis |
| title_sort | developmental role of the cystic fibrosis transmembrane conductance regulator in cystic fibrosis lung disease pathogenesis |
| topic | stem cells disease modeling lung development and pulmonary diseases Wnt/β-catenin cystic fibrosis |
| url | https://www.frontiersin.org/articles/10.3389/fcell.2021.742891/full |
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