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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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Bibliographic Details
Main Authors: Eichstaedt, Christina (Author) , Benjamin, Nicola (Author) , Grünig, Ekkehard (Author)
Format: Article (Journal)
Language:English
Published: April 23, 2020
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
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Author Notes:Christina A. Eichstaedt, Nicola Benjamin, and Ekkehard Grünig
Description
Summary: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.
Item Description:Gesehen am 06.05.2021
Physical Description:Online Resource
ISSN:1522-1601
DOI:10.1152/japplphysiol.00113.2020

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