Genetics of pulmonary hypertension and high-altitude pulmonary edema

• Verfasst von: Eichstaedt, Christina [VerfasserIn]
• Verfasst von: Benjamin, Nicola [VerfasserIn]
• Verfasst von: Grünig, Ekkehard [VerfasserIn]
• Titel: Genetics of pulmonary hypertension and high-altitude pulmonary edema
• Verf.angabe: Christina A. Eichstaedt, Nicola Benjamin, and Ekkehard Grünig
• E-Jahr: 2020
• Jahr: April 23, 2020
• Umfang: 7 S.
• Fussnoten: Gesehen am 06.05.2021
• Titel Quelle: Enthalten in: Journal of applied physiology
• Ort Quelle: Bethesda, Md. : American Physiological Society, 1948
• Jahr Quelle: 2020
• Band/Heft Quelle: 128(2020), 5 vom: Mai, Seite 1432-1438
• ISSN Quelle: 1522-1601
• DOI: doi:10.1152/japplphysiol.00113.2020
• Datenträger: Online-Ressource
• Sprache: eng
• K10plus-PPN: 1757209484

Abstract

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.