Researchers at the University of Iowa and Kansas State University say a deafness-causing gene defect in mice helped identify a new protein that protects sensory cells in the ear, according to findings in PLoS Genetics.
In humans, hereditary deafness is one of the most common birth defects, yet most genes involved in hearing are unidentified. Mice are used as research models because mouse and human auditory genetics are very similar.
Using a deaf mouse model generated at The Jackson Laboratory, the team identified the deafness-causing defect in the claudin-9 gene. The mutated gene fails to produce normal claudin-9 protein, which, the UI team showed, is needed to maintain the proper distribution of potassium in the inner ear.
"Genes in the claudin family number at least 24 and produce proteins that prevent ions, including potassium, from moving between cells," said senior author Botond Banfi. "Sensory cells in the hearing organ are bathed in a high potassium solution on one side and in a low potassium solution on the other side. We found that claudin-9 is very important in keeping the amount of potassium on the two sides separate. This separation protects sensory cells from potassium intoxication."
When claudin-9 is mutated, potassium floods the wrong part of the sensory cells, killing most and leaving the remaining ones functionally defective.
In follow-up efforts, Banfi and colleagues are screening people with hearing impairment to see if some of them have a mutation in claudin-9.
FINANCIAL DISCLOSURE: The study was funded in part by a grant from the National Institutes of Health and support from the UI Roy J. and Lucille A. Carver College of Medicine and the UI Gene Therapy Center. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
COMPETING INTERESTS: The authors have declared that no competing interests exist.
CITATION: Nakano Y, Kim SH, Kim H-M, Sanneman JD, Zhang Y, et al. (2009) A Claudin-9–Based Ion Permeability Barrier Is Essential for Hearing. PLoS Genet 5(8): e1000610. doi:10.1371/journal.pgen.1000610
- PHYSICAL SCIENCES
- EARTH SCIENCES
- LIFE SCIENCES
- SOCIAL SCIENCES
Subscribe to the newsletter
Stay in touch with the scientific world!
Know Science And Want To Write?
- Researchers Created A Laser Bullet To See What It Would Look Like - And Here It Is
- What Americans Fear Most Isn't Ebola Or Terrorism, It's...
- Great Earthquakes Doubled In The Most Recent 10 Year Period - What That Means
- ECFA Workshop: Planning For The High Luminosity LHC
- Why Climate 'Uncertainty' Is No Excuse For Doing Nothing
- Dams Are Not The Smart Way To Secure Water For Agriculture
- Slavery In America: Back In The Headlines
- "Here is what surface station really have measured..."
- "You enjoy taking down comments you do not like, don't you king of strawman arguments? ..."
- "I'm sorry the definition was 'one who believes there is no diety' Though my point remains valid..."
- "Wasn't the Webster definition 'someone who believes there is no god' Wouldn't this only be applicable..."
- "Without scientific certainty not just a consensus that it could be the end of days from Human CO2..."
- National Wildlife Refuge System bans on GMOs and neonics lack transparency, scientific rationale
- Want better sperm? Eat more pesticides
- Beyond universal donors, some people are programed with no blood type at all
- Anti-conventional ag movement spurs Big Ag to look to organic pesticides
- Can people really inherit memories?
- An end to fat shaming? The 50 year DNA mystery of metabolic dysfunction may soon be solved
Books By Writers Here