New Mutations and Pathogenesis of Pulmonary Hypertension: Progress and Puzzles in Disease Pathogenesis

dc.contributor.authorAldred, Micheala A.
dc.contributor.authorMorrell, Nicholas W.
dc.contributor.authorGuignabert, Christophe
dc.contributor.departmentMedicine, School of Medicine
dc.date.accessioned2023-12-20T11:02:34Z
dc.date.available2023-12-20T11:02:34Z
dc.date.issued2022
dc.description.abstractPulmonary 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 (PVR), ultimately leading to right heart failure and death. Mutations in the gene encoding Bone Morphogenetic Protein Receptor type 2 (BMPR2), a receptor for the transforming growth factor-beta (TGF-β) superfamily, account for over 70% of families with PAH, and approximately 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.
dc.eprint.versionAuthor's manuscript
dc.identifier.citationAldred MA, Morrell NW, Guignabert C. New Mutations and Pathogenesis of Pulmonary Hypertension: Progress and Puzzles in Disease Pathogenesis. Circ Res. 2022;130(9):1365-1381. doi:10.1161/CIRCRESAHA.122.320084
dc.identifier.urihttps://hdl.handle.net/1805/37434
dc.language.isoen_US
dc.publisherAmerican Heart Association
dc.relation.isversionof10.1161/CIRCRESAHA.122.320084
dc.relation.journalCirculation Research
dc.rightsPublisher Policy
dc.sourcePMC
dc.subjectPulmonary hypertension
dc.subjectPulmonary vascular remodeling
dc.subjectFunctional genetic
dc.subjectGene mutation
dc.subjectFamilial
dc.titleNew Mutations and Pathogenesis of Pulmonary Hypertension: Progress and Puzzles in Disease Pathogenesis
dc.typeArticle
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