转录组
骨形态发生蛋白
生物标志物
BMPR2型
医学
骨形态发生蛋白受体
信号转导
受体
癌症研究
肺动脉高压
生物信息学
疾病
蛋白质组学
肺
骨形态发生蛋白7
生物
细胞
细胞生物学
免疫学
外周血单个核细胞
基因
生物标志物发现
内科学
基因表达谱
表型
骨形态发生蛋白2
代谢性骨病
诊断生物标志物
作者
R. Jones,Eckart M. D. D. De Bie,Nina Deliu,Anthony YKC Ng,Benjamin J. Dunmore,Stefan Gräf,Christophe Guignabert,Marc Humbert,Laurent Savale,L Tu,Athénäis Boucly,Joseph Newman,Gary Polwarth,Paul D. Upton,Allan Lawrie,C J Rhodes,M R Wilkins,S Binmahfooz,Alexander M. K. Rothman,anna hemnes
标识
DOI:10.1126/scitranslmed.ads5175
摘要
Pulmonary arterial hypertension (PAH) is a rare, life-limiting disease where imbalances in the transforming growth factor-β (TGF-β) and bone morphogenetic protein receptor type II (BMPR-II) superfamily pathways have causal roles in hereditary and idiopathic forms of the disease. These pathways are emerging attractive candidates for therapeutic intervention, but there is an unmet need for clinically relevant and practical biomarkers that can measure target engagement, partly because of the inaccessibility of lung tissue in disease for molecular profiling. Here, we explored the surrogate capacity of peripheral blood bone morphogenetic protein (BMP) pathway-specific markers using samples collected in the StratosPHere 1 study using both cell surface assessment of BMPR-II receptor levels and quantitative PCR for the assessment of downstream target engagement. Downstream BMPR-II canonical and noncanonical signaling was measurable and altered in whole blood in both discovery and international replication cohorts, and transcriptomic signatures were clustered by discrete gene modules that associated with clinical outcomes and mortality. We derived a transcriptomic biomarker panel that was repeatable, reproducible, and longitudinally stable for use in early phase, target engagement clinical trials. The biomarker panel was used in a pilot study of nine sotatercept-treated patients with PAH to test the effect of the therapy on the BMP pathway; analysis suggested that sotatercept did not rebalance or increase BMPR-II pathway signaling but rather led to a reduction, possibly due to depletion of circulating BMP9 and BMP10.
科研通智能强力驱动
Strongly Powered by AbleSci AI