Investigating the role of a specific gene in hearing loss
The Role of Aco2 in progressive hearing loss
This study is looking at how changes in the ACO2 gene might cause hearing loss in kids by affecting the tiny parts of their cells that help them hear, and it hopes to find new ways to help those with this condition.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Jackson Laboratory NIH-funded |
| Lab location | 1 site (Bar Harbor, United States) |
| Project ID | NIH-11165732 on NIH RePORTER |
What this research studies
This research focuses on understanding how mutations in the ACO2 gene contribute to progressive hearing loss, particularly in children. It examines the relationship between mitochondrial dysfunction and auditory nerve degeneration, which can lead to hearing impairment. By using animal models, the study aims to uncover the cellular mechanisms behind ACO2-related hearing loss and potentially identify new therapeutic targets. The research will involve genetic analysis and behavioral assessments to evaluate hearing function.
Who could benefit from this research
Good fit: Ideal candidates for this research are children under 11 years old who have been diagnosed with hearing loss potentially linked to genetic mutations.
Not a fit: Patients with hearing loss due to non-genetic factors or those over the age of 11 may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments or preventive strategies for hearing loss in children caused by genetic factors.
How similar studies have performed: Previous research has shown success in understanding genetic contributions to hearing loss, but this specific focus on ACO2 is relatively novel.
Where this research is happening
Bar Harbor, United States
- Jackson Laboratory — Bar Harbor, United States (Active)
Researchers
- Principal investigator: Sambolin-Escobales, Lubriel — Jackson Laboratory
- Study coordinator: Sambolin-Escobales, Lubriel
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.