Understanding how mutations in frataxin affect Friedreich's ataxia
Defining the impact of Frataxin point mutations on Friedreich's ataxia pathogenesis
This study is looking at how certain changes in the frataxin gene, especially the G130V mutation, affect the way the frataxin protein works in people with Friedreich's ataxia, with the hope of finding new ways to help treat the condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ut Southwestern Medical Center NIH-funded |
| Lab location | 1 site (Dallas, United States) |
| Project ID | NIH-11031409 on NIH RePORTER |
What this research studies
This research investigates the role of frataxin mutations in the development of Friedreich's ataxia, a neurodegenerative disease. It focuses on how different mutations, particularly the G130V mutation, influence the production of the frataxin protein and the resulting clinical symptoms in patients. By analyzing patient samples and comparing them to healthy controls, the research aims to uncover the biochemical mechanisms that lead to the disease's progression. This could help identify potential therapeutic targets for treatment.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Friedreich's ataxia, particularly those with specific frataxin mutations.
Not a fit: Patients with Friedreich's ataxia who do not have frataxin mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and potential treatments for Friedreich's ataxia.
How similar studies have performed: Previous research has shown promising results in understanding the role of frataxin in Friedreich's ataxia, suggesting that this approach could yield valuable insights.
Where this research is happening
Dallas, United States
- Ut Southwestern Medical Center — Dallas, United States (Active)
Researchers
- Principal investigator: Napierala, Marek — Ut Southwestern Medical Center
- Study coordinator: Napierala, Marek
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.