Understanding how certain mutations cause nerve and muscle damage
Novel mechanism of neural and muscular degeneration
This study is looking at how certain changes in a gene important for energy in our muscles and nerves can lead to problems like muscle weakness and nerve damage, using mice to help understand how these changes affect health, which could eventually help find new treatments for conditions like ALS.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Upstate Medical University NIH-funded |
| Lab location | 1 site (Syracuse, United States) |
| Project ID | NIH-10842398 on NIH RePORTER |
What this research studies
This research investigates the effects of specific mutations in the Ant1 gene, which is crucial for energy exchange in cells, particularly in muscles and the nervous system. By using mouse models that express these mutations, the study aims to uncover the mechanisms behind muscle and nerve degeneration caused by these genetic changes. The researchers will explore how these mutations lead to the accumulation of harmful proteins in cells, contributing to cell death and disease progression. This work could provide insights into potential therapeutic targets for conditions like Amyotrophic Lateral Sclerosis.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with Amyotrophic Lateral Sclerosis or related neuromuscular disorders, particularly those with known Ant1 mutations.
Not a fit: Patients with neuromuscular disorders not related to Ant1 mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for patients suffering from muscle and nerve diseases caused by Ant1 mutations.
How similar studies have performed: While the specific approach of investigating Ant1 mutations is novel, similar research has shown promise in understanding mitochondrial dysfunction in other neuromuscular diseases.
Where this research is happening
Syracuse, United States
- Upstate Medical University — Syracuse, United States (Active)
Researchers
- Principal investigator: Chen, Xin Jie — Upstate Medical University
- Study coordinator: Chen, Xin Jie
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.