Genetics of pulmonary hypertension and high-altitude pulmonary edema
Heritable pulmonary arterial hypertension (PAH) is an autosomal dominantly inherited disease caused by mutations in the bone morphogenetic protein receptor 2 (BMPR2) gene and/or genes of its signaling pathway in ~85% of patients. A genetic predisposition to high-altitude pulmonary edema (HAPE) has l...
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| Main Authors: | , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
April 23, 2020
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| In: |
Journal of applied physiology
Year: 2020, Volume: 128, Issue: 5, Pages: 1432-1438 |
| ISSN: | 1522-1601 |
| DOI: | 10.1152/japplphysiol.00113.2020 |
| Online Access: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1152/japplphysiol.00113.2020 Verlag, lizenzpflichtig, Volltext: https://journals.physiology.org/doi/full/10.1152/japplphysiol.00113.2020 |
| Author Notes: | Christina A. Eichstaedt, Nicola Benjamin, and Ekkehard Grünig |
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| 520 | |a Heritable pulmonary arterial hypertension (PAH) is an autosomal dominantly inherited disease caused by mutations in the bone morphogenetic protein receptor 2 (BMPR2) gene and/or genes of its signaling pathway in ~85% of patients. A genetic predisposition to high-altitude pulmonary edema (HAPE) has long been suspected because of familial HAPE cases, but very few possibly disease-causing mutations have been identified to date. This minireview provides an overview of genetic analyses investigating common polymorphisms in HAPE-susceptible patients and the directed identification of disease-causing mutations in PAH patients. Increased pulmonary artery pressure is highlighted as an overlapping clinical feature of the two diseases. Moreover, studies showing increased pulmonary artery pressures in HAPE-susceptible patients during exercise or hypoxia as well as in healthy BMPR2 mutation carriers are illustrated. Finally, high-altitude pulmonary hypertension is introduced and future research perspectives outlined. | ||
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