How BMP receptor mutations lead to pulmonary arterial hypertension
Elucidating the structural insights into the BMP receptor mutations in PAH
['FUNDING_R01'] · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · NIH-11290850
This work looks at how changes in BMP receptor proteins cause pulmonary arterial hypertension in people, especially those with BMPR2 gene mutations.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CALIFORNIA, SAN FRANCISCO (nih funded) |
| Locations | 1 site (SAN FRANCISCO, UNITED STATES) |
| Trial ID | NIH-11290850 on ClinicalTrials.gov |
What this research studies
Researchers at UCSF will examine the shape and activation of BMP receptor proteins that control cells in the lung blood vessels, focusing on BMPR2 and related receptors. They will use protein-structure methods and cell-based experiments to see how specific mutations change receptor assembly and SMAD signaling. The team aims to connect those molecular changes to the more severe, earlier-onset PAH seen in people with BMPR2 mutations, which could point toward new molecular targets for therapy.
Who could benefit from this research
Good fit: Ideal candidates are people with pulmonary arterial hypertension who carry BMPR2 or related ACVRL1/ACVR1 mutations or who are willing to donate samples for genetic and molecular research.
Not a fit: People with forms of pulmonary hypertension that are not linked to BMPR2 or related receptor genes are unlikely to gain direct clinical benefit from this lab-focused work in the short term.
Why it matters
Potential benefit: If successful, this work could reveal specific targets or strategies to restore normal receptor function and guide new treatments for people with BMPR2-related PAH.
How similar studies have performed: Prior laboratory studies have connected BMPR2 mutations to PAH and described some functional effects, but therapies based on detailed receptor structure are still largely novel and unproven.
Where this research is happening
SAN FRANCISCO, UNITED STATES
- UNIVERSITY OF CALIFORNIA, SAN FRANCISCO — SAN FRANCISCO, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: HATA, AKIKO — UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
- Study coordinator: HATA, AKIKO
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.