Understanding how a protein related to Charcot-Marie-Tooth disease affects calcium and mitochondria.
Control of calcium flux and mitochondrial fission by the Charcot Marie Tooth disease protein Mfn2.
This study is looking at how a protein called Mitofusin-2 affects nerve health in people with Charcot-Marie-Tooth disease, with the hope of finding new ways to help improve their condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California Los Angeles NIH-funded |
| Lab location | 1 site (Los Angeles, United States) |
| Project ID | NIH-11003359 on NIH RePORTER |
What this research studies
This research investigates the role of the Mitofusin-2 (Mfn2) protein in Charcot-Marie-Tooth disease (CMT), a genetic condition that leads to nerve damage and muscle weakness. The study focuses on how Mfn2 influences calcium flow and the division of mitochondria, which are essential for energy production in cells. By examining the interactions between Mfn2, calcium release, and mitochondrial function, the research aims to uncover mechanisms that may contribute to the degeneration of nerve cells in CMT patients. The findings could lead to new insights into potential therapeutic targets for improving nerve health.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Charcot-Marie-Tooth disease, particularly those with mutations affecting the Mfn2 protein.
Not a fit: Patients with Charcot-Marie-Tooth disease not related to Mfn2 mutations or those with other unrelated neurological conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that help protect nerve cells and improve muscle function in patients with Charcot-Marie-Tooth disease.
How similar studies have performed: While the specific approach of targeting Mfn2 in CMT is novel, similar research has shown promise in understanding mitochondrial function in other neurological disorders.
Where this research is happening
Los Angeles, United States
- University of California Los Angeles — Los Angeles, United States (Active)
Researchers
- Principal investigator: Van Der Bliek, Alexander M — University of California Los Angeles
- Study coordinator: Van Der Bliek, Alexander M
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.