How a gene causes inherited hearing loss
Mechanisms of Mammalian Genetic Hearing Loss
Looks at how changes in the TMPRSS3 gene cause inner-ear hair cells to die and lead to inherited hearing loss for people with genetic deafness.
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-11318933 on NIH RePORTER |
What this research studies
Researchers are studying the human deafness gene TMPRSS3 to understand why sensory hair cells in the inner ear die. They will use lab-grown cells and mouse models to examine the apical tight junctions that normally block potassium-rich fluid from leaking onto hair cells. The team will test whether losing TMPRSS3 breaks those junctions, allows toxic potassium exposure, and triggers rapid hair cell degeneration. Understanding this process could point to ways to stop hair cell death before hearing is lost.
Who could benefit from this research
Good fit: People or families with inherited hearing loss caused by TMPRSS3 gene changes or those with early-onset genetic deafness.
Not a fit: People whose hearing loss is due to aging, noise exposure, infection, or different genetic causes may not directly benefit from this work.
Why it matters
Potential benefit: Could identify biological targets to prevent hair cell death and lead to future treatments that protect or restore hearing in people with TMPRSS3-related deafness.
How similar studies have performed: Related laboratory and animal studies have linked TMPRSS3 and tight-junction genes to hair cell degeneration, but the detailed mechanism is still being defined.
Where this research is happening
Indianapolis, United States
- Indiana University Indianapolis — Indianapolis, United States (Active)
Researchers
- Principal investigator: Nelson, Rick F — Indiana University Indianapolis
- Study coordinator: Nelson, Rick F
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.