Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

ABSTRACT: Pulmonary arterial hypertension (PAH) is an often fatal disorder resulting from several causes including heterogeneous genetic defects. While mutations in the bone morphogenetic protein receptor type II (BMPR2) gene are the single most common causal factor for hereditary cases, pathogenic mutations have been observed in approximately 25% of idiopathic PAH patients without a prior family history of disease. Additional defects of the transforming growth factor beta pathway have been implicated in disease pathogenesis. Specifically, studies have confirmed activin A receptor type II-like 1 (ACVRL1), endoglin (ENG), and members of the SMAD family as contributing to PAH both with and without associated clinical phenotypes. Most recently, next-generation sequencing has identified novel, rare gene

SUBMITTER: Machado RD 

PROVIDER: S-EPMC4822159 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature