Navigation Links
Gene discovery reveals a critical protein's function in hearing

Discovery of a deafness-causing gene defect in mice has helped identify a new protein that protects sensory cells in the ear, according to a study by University of Iowa and Kansas State University researchers. The findings appear in the August 21 issue of the open-access journal 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.


Contact: Tamsin Eldred
Public Library of Science

Page: 1

Related biology news :

1. Discovery of genetic mutation in Leigh syndrome
2. Discovery to aid in future treatments of third-world parasites
3. New discovery suggests trees evolved camouflage defense against long extinct predator
4. Down Under dinosaur burrow discovery provides climate change clues
5. GUMC discovery highlights new direction for drug discovery
6. Discovery may provide new treatments for alcohol dependence
7. New nanoparticles could revolutionize therapeutic drug discovery
8. Discovery of a water snake that startles fish in a way that makes them flee into its jaws
9. New discovery suggests mammoths survived in Britain until 14,000 years ago
10. Discovery of the cells water gate may lead to new cancer drugs
11. Aussie and Kiwi researchers make double MS genetic discovery
Post Your Comments:
(Date:6/22/2016)... On Monday, the Department of Homeland Security ... solutions for the Biometric Exit Program. The Request for ... (CBP), explains that CBP intends to add biometrics to ... United States , in order to deter visa ... Logo - ...
(Date:6/9/2016)... , June 9, 2016  Perkotek an innovation leader in attendance control systems ... seamlessly log work hours, for employers to make sure the right employees are actually ... ... ... ...
(Date:6/2/2016)... 2, 2016   The Weather Company , an IBM ... an industry-first capability in which consumers will be able to ... ask questions via voice or text and receive relevant information ... Marketers have long sought an advertising solution that ... be personal, relevant and valuable; and can scale across millions ...
Breaking Biology News(10 mins):
(Date:6/24/2016)... 24, 2016 Epic Sciences unveiled a ... susceptible to PARP inhibitors by targeting homologous recombination ... The new test has already been incorporated into ... cancer types. Over 230 clinical trials ... pathways, including PARP, ATM, ATR, DNA-PK and WEE-1. ...
(Date:6/23/2016)... ... June 23, 2016 , ... ... to announce the launch of their brand, UP4™ Probiotics, into Target stores nationwide. ... years, is proud to add Target to its list of well-respected retailers. This ...
(Date:6/23/2016)... , June 23, 2016 Houston ... with the Cy-Fair Sports Association to serve as ... the agreement, Houston Methodist Willowbrook will provide sponsorship ... and connectivity with association coaches, volunteers, athletes and ... with the Cy-Fair Sports Association and to bring ...
(Date:6/23/2016)... --  EpiBiome , a precision microbiome engineering company, today ... from Silicon Valley Bank (SVB). The financing will allow ... drug development efforts, as well as purchase additional lab ... been an incredible strategic partner to us – one ... provide," said Dr. Aeron Tynes Hammack , EpiBiome,s ...
Breaking Biology Technology: