%0 Journal Article %T New Mutations and Pathogenesis of Pulmonary Hypertension: Progress and Puzzles in Disease Pathogenesis %+ Indiana University School of Medicine %+ Addenbrooke's Hospital %+ University of Cambridge [UK] (CAM) %+ Hypertension arterielle pulmonaire physiopathologie et innovation thérapeutique %+ Hôpital Marie-Lannelongue %A Aldred, Micheala %A Morrell, Nicholas %A Guignabert, Christophe %< avec comité de lecture %@ 0009-7330 %J Circulation Research %I American Heart Association %V 130 %N 9 %P 1365-1381 %8 2022-04-29 %D 2022 %R 10.1161/CIRCRESAHA.122.320084 %M 35482831 %K arterioles %K hypertension %K pulmonary %K lung %K mutation %K prognosis %Z Life Sciences [q-bio]/Cellular Biology %Z Life Sciences [q-bio] %Z Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system %Z Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tractJournal articles %X Pulmonary arterial hypertension (PAH) is a complex multifactorial disease with poor prognosis characterized by functional and structural alterations of the pulmonary circulation causing marked increase in pulmonary vascular resistance, ultimately leading to right heart failure and death. Mutations in the gene encoding BMPRII-a receptor for the TGF-β (transforming growth factor-beta) superfamily-account for over 70% of families with PAH and ≈20% of sporadic cases. In recent years, however, less common or rare mutations in other genes have been identified. This review will consider how these newly discovered PAH genes could help to provide a better understanding of the molecular and cellular bases of the maintenance of the pulmonary vascular integrity, as well as their role in the PAH pathogenesis underlying occlusion of arterioles in the lung. We will also discuss how insights into the genetic contributions of these new PAH-related genes may open up new therapeutic targets for this, currently incurable, cardiopulmonary disorder. %G English %2 https://inserm.hal.science/inserm-03654919/document %2 https://inserm.hal.science/inserm-03654919/file/CIRCRESAHA.122.320084.pdf %L inserm-03654919 %U https://inserm.hal.science/inserm-03654919 %~ INSERM %~ CARDIO %~ UNIV-PARIS-SACLAY %~ ANR %~ GS-HEALTH-DRUG-SCIENCES %~ HPPIT