At the X-Roads of Sex and Genetics in Pulmonary Arterial Hypertension
Group 1 pulmonary hypertension (pulmonary arterial hypertension; PAH) is a rare disease characterized by remodeling of the small pulmonary arteries leading to progressive elevation of pulmonary vascular resistance, ultimately leading to right ventricular failure and death. Deleterious mutations in t...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2020-11-01
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| Series: | Genes |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2073-4425/11/11/1371 |
| _version_ | 1797547355826814976 |
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| author | Meghan M. Cirulis Mark W. Dodson Lynn M. Brown Samuel M. Brown Tim Lahm Greg Elliott |
| author_facet | Meghan M. Cirulis Mark W. Dodson Lynn M. Brown Samuel M. Brown Tim Lahm Greg Elliott |
| author_sort | Meghan M. Cirulis |
| collection | DOAJ |
| description | Group 1 pulmonary hypertension (pulmonary arterial hypertension; PAH) is a rare disease characterized by remodeling of the small pulmonary arteries leading to progressive elevation of pulmonary vascular resistance, ultimately leading to right ventricular failure and death. Deleterious mutations in the serine-threonine receptor bone morphogenetic protein receptor 2 (<i>BMPR2</i>; a central mediator of bone morphogenetic protein (BMP) signaling) and female sex are known risk factors for the development of PAH in humans. In this narrative review, we explore the complex interplay between the BMP and estrogen signaling pathways, and the potentially synergistic mechanisms by which these signaling cascades increase the risk of developing PAH. A comprehensive understanding of these tangled pathways may reveal therapeutic targets to prevent or slow the progression of PAH. |
| first_indexed | 2024-03-10T14:43:07Z |
| format | Article |
| id | doaj.art-a6f1476fc1e944e18867e15ae5a1f38a |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T14:43:07Z |
| publishDate | 2020-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-a6f1476fc1e944e18867e15ae5a1f38a2023-11-20T21:39:12ZengMDPI AGGenes2073-44252020-11-011111137110.3390/genes11111371At the X-Roads of Sex and Genetics in Pulmonary Arterial HypertensionMeghan M. Cirulis0Mark W. Dodson1Lynn M. Brown2Samuel M. Brown3Tim Lahm4Greg Elliott5Division of Pulmonary, Critical Care and Occupational Medicine, University of Utah, Salt Lake City, UT 84132, USADivision of Pulmonary, Critical Care and Occupational Medicine, University of Utah, Salt Lake City, UT 84132, USADivision of Pulmonary, Critical Care and Occupational Medicine, University of Utah, Salt Lake City, UT 84132, USADivision of Pulmonary, Critical Care and Occupational Medicine, University of Utah, Salt Lake City, UT 84132, USADivision of Pulmonary, Critical Care, Sleep and Occupational Medicine, Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USADivision of Pulmonary, Critical Care and Occupational Medicine, University of Utah, Salt Lake City, UT 84132, USAGroup 1 pulmonary hypertension (pulmonary arterial hypertension; PAH) is a rare disease characterized by remodeling of the small pulmonary arteries leading to progressive elevation of pulmonary vascular resistance, ultimately leading to right ventricular failure and death. Deleterious mutations in the serine-threonine receptor bone morphogenetic protein receptor 2 (<i>BMPR2</i>; a central mediator of bone morphogenetic protein (BMP) signaling) and female sex are known risk factors for the development of PAH in humans. In this narrative review, we explore the complex interplay between the BMP and estrogen signaling pathways, and the potentially synergistic mechanisms by which these signaling cascades increase the risk of developing PAH. A comprehensive understanding of these tangled pathways may reveal therapeutic targets to prevent or slow the progression of PAH.https://www.mdpi.com/2073-4425/11/11/1371bone morphogenetic protein receptor type 2heritablefamilialestrogenestradiolpenetrance |
| spellingShingle | Meghan M. Cirulis Mark W. Dodson Lynn M. Brown Samuel M. Brown Tim Lahm Greg Elliott At the X-Roads of Sex and Genetics in Pulmonary Arterial Hypertension Genes bone morphogenetic protein receptor type 2 heritable familial estrogen estradiol penetrance |
| title | At the X-Roads of Sex and Genetics in Pulmonary Arterial Hypertension |
| title_full | At the X-Roads of Sex and Genetics in Pulmonary Arterial Hypertension |
| title_fullStr | At the X-Roads of Sex and Genetics in Pulmonary Arterial Hypertension |
| title_full_unstemmed | At the X-Roads of Sex and Genetics in Pulmonary Arterial Hypertension |
| title_short | At the X-Roads of Sex and Genetics in Pulmonary Arterial Hypertension |
| title_sort | at the x roads of sex and genetics in pulmonary arterial hypertension |
| topic | bone morphogenetic protein receptor type 2 heritable familial estrogen estradiol penetrance |
| url | https://www.mdpi.com/2073-4425/11/11/1371 |
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