At the X-Roads of Sex and Genetics in Pulmonary Arterial Hypertension

Genes

LynnM. Brown¹  Greg Elliott¹  SamuelM. Brown¹  MeghanM. Cirulis¹  MarkW. Dodson¹  Tim Lahm² 

[1] Division of Pulmonary, Critical Care and Occupational Medicine, University of Utah, Salt Lake City, UT 84132, USA;Division of Pulmonary, Critical Care, Sleep and Occupational Medicine, Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA;

关键词: bone morphogenetic protein receptor type 2;    heritable;    familial;    estrogen;    estradiol;    penetrance;   

DOI  :  10.3390/genes11111371

来源: DOAJ

【 摘 要 】

Group 1 pulmonary hypertension (pulmonary arterial hypertension; PAH) is a rare disease characterized by remodeling of the small pulmonary arteries leading to progressive elevation of pulmonary vascular resistance, ultimately leading to right ventricular failure and death. Deleterious mutations in the serine-threonine receptor bone morphogenetic protein receptor 2 (BMPR2; a central mediator of bone morphogenetic protein (BMP) signaling) and female sex are known risk factors for the development of PAH in humans. In this narrative review, we explore the complex interplay between the BMP and estrogen signaling pathways, and the potentially synergistic mechanisms by which these signaling cascades increase the risk of developing PAH. A comprehensive understanding of these tangled pathways may reveal therapeutic targets to prevent or slow the progression of PAH.

【 授权许可】

Unknown