Genetic variants of the BMPR2 gene and their contribution to the development of pulmonary arterial hypertension.

• DOI: 10.30574/gscarr.2024.19.3.0227
• Publication Date: 2024-07-01T10:10:19Z
• Authors: Azahel Barraza-G...; David Carbajal-G...; Judith Ramirez-O...; Erick Valenzuela...; Brissia Lazalde
• Keywords: BMPR2; Endothelial Dysfunction

Pulmonary arterial hypertension (PAH) is a devastating disease characterized by progressive increase in pressure the pulmonary arteries. This leads to vascular remodeling and, eventually, right heart failure. Variants BMPR2 gene, which encodes bone morphogenetic protein receptor type 2, are most common genetic cause of hereditary and idiopathic PAH. These variants disrupt transforming growth factor-beta (TGF-β) signaling pathway, triggering abnormal proliferation artery smooth muscle cells apoptosis endothelial cells. results complex remodeling, thickening walls, formation plexiform lesions, situ thrombosis. Endothelial dysfunction also contributes an imbalance between vasoconstrictors vasodilators, exacerbating hypertension. While current therapies aim restore this balance, they have limited impact on underlying remodeling. Emerging strategies seek functionality or enhance their through agonists read-through molecules. Additionally, higher penetrance has been observed women carrying variants, suggesting interaction with sex hormone metabolism. The research aims understand role gene development PAH explore emerging these signaling.