Skip to Main content Skip to Navigation
Journal articles

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

Abstract : 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.
Complete list of metadata

https://www.hal.inserm.fr/inserm-03654919
Contributor : Christophe Guignabert Connect in order to contact the contributor
Submitted on : Friday, April 29, 2022 - 8:42:15 AM
Last modification on : Wednesday, May 4, 2022 - 3:50:05 AM

File

 Restricted access
To satisfy the distribution rights of the publisher, the document is embargoed until : jamais

Please log in to resquest access to the document

Identifiers

Citation

Micheala Aldred, Nicholas Morrell, Christophe Guignabert. New Mutations and Pathogenesis of Pulmonary Hypertension: Progress and Puzzles in Disease Pathogenesis. Circulation Research, American Heart Association, 2022, 130 (9), pp.1365-1381. ⟨10.1161/CIRCRESAHA.122.320084⟩. ⟨inserm-03654919⟩

Share

Metrics

Record views

9