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Gene involved in pulmonary hypertension is identified

This article was originally published in Clinica

Executive Summary

Two groups of researchers based mainly in the US claim to have discovered a link between mutations in the bone morphogenetic protein receptor type II (BMPR2) gene and the rare condition, primary pulmonary hypertension (PPH). The main pathogenic feature of this fatal condition is obstruction of the pulmonary arterioles caused by proliferation of endothelial cells, which leads to elevated pressure in the pulmonary artery and right ventricular failure.

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