Understanding heart disease in Barth Syndrome
Molecular mechanisms and treatment of cardiomyopathy in Barth Syndrome
This study is looking at how a gene change in Barth Syndrome affects heart health, using a special mouse model to understand the role of a key fat in heart cells, with the hope of finding new treatments for people with this condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Diego NIH-funded |
| Lab location | 1 site (La Jolla, United States) |
| Project ID | NIH-11046647 on NIH RePORTER |
What this research studies
This research investigates the molecular mechanisms behind cardiomyopathy in Barth Syndrome, a serious condition caused by mutations in the tafazzin gene. By using a specialized mouse model that mimics the disease, researchers aim to uncover how these genetic mutations disrupt heart function and lead to heart disease. The study focuses on the role of cardiolipin, a crucial lipid in heart cells, and how its abnormalities contribute to the progression of cardiomyopathy. The ultimate goal is to identify potential therapeutic targets that could lead to effective treatments for patients with Barth Syndrome.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Barth Syndrome, particularly those experiencing cardiomyopathy.
Not a fit: Patients without Barth Syndrome or those whose heart conditions are unrelated to genetic mutations in the tafazzin gene may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for heart disease associated with Barth Syndrome, improving patient outcomes.
How similar studies have performed: While research on Barth Syndrome is limited, similar studies on genetic cardiomyopathies have shown promise in identifying therapeutic targets.
Where this research is happening
La Jolla, United States
- University of California, San Diego — La Jolla, United States (Active)
Researchers
- Principal investigator: Fang, Xi — University of California, San Diego
- Study coordinator: Fang, Xi
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.