Featured Research

from universities, journals, and other organizations

New Mouse Mutant Contains Clue To Progressive Hearing Loss

Date:
November 3, 2008
Source:
Public Library of Science
Summary:
Researchers have defined a mutation in the mouse genome that mimics progressive hearing loss in humans. Scientists have found that mice carrying a mutation called Oblivion displayed problems with the function of hair cells in the inner ear, occurring before clear physical effects are seen.

Researchers have defined a mutation in the mouse genome that mimics progressive hearing loss in humans. A team from the Wellcome Trust Sanger Institute in Cambridge, UK, working with colleagues in Munich and Padua, found that mice carrying a mutation called Oblivion displayed problems with the function of hair cells in the inner ear, occurring before clear physical effects are seen.

Related Articles


Progressive loss of hearing affects around six out of ten people over the age of 70. Whilst environmental causes can contribute, genetic influences also play a major role. Although we know of many genes involved in deafness in childhood, most of these genes contribute only rarely to progressive hearing loss in humans and their role is poorly understood.

The team found that the Oblivion mutation showed features in common with forms of human deafness. In mice with one mutant copy of the Oblivion gene, the hair cells showed some function at first but later degenerated; in mice with two mutant copies, the hair cells were already damaged at birth.

"When we mapped the mutation to the mouse genome, we quickly found a probable cause for hearing loss," explains senior author Professor Karen Steel. "We showed that the mutant mice carried a change in one letter of their genetic code in a gene called Atp2b2. Changing a specific C to a T in this gene stops it from producing a normal molecular pump that is needed to keep hair cells in the ear working efficiently by pumping excess calcium out of the cell."

Although other mutations have been described, Oblivion is unique in the way it leads to hearing loss due to mutations in Atp2b2, a gene which has previously been implicated in hearing loss in humans. "One aim of identifying and characterizing mice with impaired hearing is to help us to understand the biology of this remarkable sense," says Professor Steel. "Improving our understanding of the molecular and cellular action of genetic variants will help us to develop improved diagnostics and improved treatments for humans."


Story Source:

The above story is based on materials provided by Public Library of Science. Note: Materials may be edited for content and length.


Journal Reference:

  1. Spiden et al. The Novel Mouse Mutation Oblivion Inactivates the PMCA2 Pump and Causes Progressive Hearing Loss. PLoS Genetics, 2008; 4 (10): e1000238 DOI: 10.1371/journal.pgen.1000238

Cite This Page:

Public Library of Science. "New Mouse Mutant Contains Clue To Progressive Hearing Loss." ScienceDaily. ScienceDaily, 3 November 2008. <www.sciencedaily.com/releases/2008/10/081030203235.htm>.
Public Library of Science. (2008, November 3). New Mouse Mutant Contains Clue To Progressive Hearing Loss. ScienceDaily. Retrieved December 20, 2014 from www.sciencedaily.com/releases/2008/10/081030203235.htm
Public Library of Science. "New Mouse Mutant Contains Clue To Progressive Hearing Loss." ScienceDaily. www.sciencedaily.com/releases/2008/10/081030203235.htm (accessed December 20, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Saturday, December 20, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

The Best Tips to Curb Holiday Carbs

The Best Tips to Curb Holiday Carbs

Buzz60 (Dec. 19, 2014) It's hard to resist those delicious but fattening carbs we all crave during the winter months, but there are some ways to stay satisfied without consuming the extra calories. Vanessa Freeman (@VanessaFreeTV) has the details. Video provided by Buzz60
Powered by NewsLook.com
Sierra Leone Bikers Spread the Message to Fight Ebola

Sierra Leone Bikers Spread the Message to Fight Ebola

AFP (Dec. 19, 2014) More than 100 motorcyclists hit the road to spread awareness messages about Ebola. Nearly 7,000 people have now died from the virus, almost all of them in west Africa, according to the World Health Organization. Video provided by AFP
Powered by NewsLook.com
Researchers Test Colombian Village With High Alzheimer's Rates

Researchers Test Colombian Village With High Alzheimer's Rates

AFP (Dec. 19, 2014) In Yarumal, a village in N. Colombia, Alzheimer's has ravaged a disproportionately large number of families. A genetic "curse" that may pave the way for research on how to treat the disease that claims a new victim every four seconds. Duration: 02:42 Video provided by AFP
Powered by NewsLook.com
Double-Amputee Becomes First To Move Two Prosthetic Arms With His Mind

Double-Amputee Becomes First To Move Two Prosthetic Arms With His Mind

Buzz60 (Dec. 19, 2014) A double-amputee makes history by becoming the first person to wear and operate two prosthetic arms using only his mind. Jen Markham has the story. Video provided by Buzz60
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins