Investigating the role of tafazzin in heart and muscle diseases
Tafazzin and metabolic reprogramming during cardiomyopathy
This study is looking at Barth syndrome, a genetic condition that affects the heart and muscles, to better understand how it works and find new ways to help those living with it.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Indiana University Indianapolis NIH-funded |
| Lab location | 1 site (Indianapolis, United States) |
| Project ID | NIH-10907690 on NIH RePORTER |
What this research studies
This research focuses on Barth syndrome, a genetic disorder caused by mutations in the tafazzin gene, which is crucial for mitochondrial function. The study aims to understand how these mutations lead to various health issues, particularly affecting the heart and muscles. By creating specific mouse models that accurately reflect the disease, researchers hope to uncover the underlying mechanisms and explore potential therapies. Patients with this condition may benefit from insights gained into their symptoms and possible treatments.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with Barth syndrome or those with mutations in the tafazzin gene.
Not a fit: Patients with unrelated genetic disorders or those without mutations in the tafazzin gene may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and treatment options for patients with Barth syndrome and related mitochondrial diseases.
How similar studies have performed: Previous research has shown promising results in understanding mitochondrial diseases, but this specific approach to studying Barth syndrome is relatively novel.
Where this research is happening
Indianapolis, United States
- Indiana University Indianapolis — Indianapolis, United States (Active)
Researchers
- Principal investigator: Conway, Simon James — Indiana University Indianapolis
- Study coordinator: Conway, Simon James
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.