A multicentre German study, run at specialist centres in Heidelberg, Hannover and Giessen/Marburg, looked at the key gene in pulmonary hypertension, BMPR2. Changes in this gene cause most inherited cases of pulmonary arterial hypertension, and the biological pathway it controls is also the target of sotatercept.
The researchers took blood samples from 234 people in seven groups: 30 heritable pulmonary arterial hypertension (HPA patients, 38 idiopathic pulmonary arterial hypertension (IPAH) without and 40 idiopathic PAH with comorbidities, 38 systemic sclerosis-associated pulmonary arterial hypertension, 47 chronic thromboembolic pulmonary hypertension (CTEPH) patients, 9 healthy BMPR2 pathogenic variant carriers and 32 healthy controls.
Main findings
The authors conclude that the data suggests that BMPR2 mRNA expression is not only significantly reduced in carriers of pathogenic BMPR2 variants, but also across all other assessed pulmonary arterial hypertension subgroups, and in chronic thromboembolic pulmonary hypertension, indicating a potential general impairment of BMPR2 signalling. BMPR2 mRNA and BMP10 protein expression in blood may serve as novel biomarkers for disease severity.
The study was exploratory, so these findings need confirming in larger studies before they can be used in practice.
Read more at this link on the European Respiratory Journal Open Research
Citation
Haas SO, Benjamin N, Shaukat M, Schneider MA, Richtmann S, Sommer N, Olsson KM, Hoeper MM, Theobald V, Harutyunova S, Xanthouli P, Egenlauf B, Grünig E, Eichstaedt CA. Impaired BMPR2 signalling across pulmonary hypertension subgroups: a multicentre study. ERJ Open Res. 2026 Sep 28;12(5):01644-2025. doi: 10.1183/23120541.01644-2025. PMID: 42807825; PMCID: PMC13617594.