Heart cell energy and mitochondrial cleanup in Barth syndrome
Understanding Cardiac Mitochondrial Quality Control Through the Lens of Barth Syndrome
['FUNDING_R01'] · JOHNS HOPKINS UNIVERSITY · NIH-11324668
This project looks at how problems with mitochondrial recycling in heart cells affect people with Barth syndrome.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | JOHNS HOPKINS UNIVERSITY (nih funded) |
| Locations | 1 site (BALTIMORE, UNITED STATES) |
| Trial ID | NIH-11324668 on ClinicalTrials.gov |
What this research studies
Researchers will use patient-derived stem cells turned into heart cells and mice lacking the TAZ gene to study how mitochondria are cleared and maintained in heart muscle. They will examine how defects in cardiolipin and core mitophagy proteins like LC3 change mitochondrial shape, gene activity, and responses to stress. The team will compare TAZ-deficient cells and tissues to normal controls and test molecular pathways that control mitophagy to identify points of failure. The lab work aims to connect these mitochondrial problems to the heart symptoms people with Barth syndrome experience.
Who could benefit from this research
Good fit: Ideal participants would be people with Barth syndrome (children, adolescents, or adults) or their families willing to provide medical history and biological samples for research.
Not a fit: People without Barth syndrome or whose heart problems have a different cause are unlikely to benefit directly from this research.
Why it matters
Potential benefit: If successful, this work could point to ways to protect or restore heart cell energy systems and guide new treatments for cardiac problems in Barth syndrome.
How similar studies have performed: Previous lab and animal studies have suggested mitophagy defects in Barth syndrome and human iPSC models have been used successfully, but this project applies new experiments to link cardiolipin-LC3 interactions specifically in heart cells.
Where this research is happening
BALTIMORE, UNITED STATES
- JOHNS HOPKINS UNIVERSITY — BALTIMORE, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: VERNON, HILARY — JOHNS HOPKINS UNIVERSITY
- Study coordinator: VERNON, HILARY
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.
Conditions: Barth syndrome