Featured Research

from universities, journals, and other organizations

New genetic deafness syndrome identified

Date:
March 10, 2011
Source:
American Institute of Physics
Summary:
Ten years ago, scientists seeking to understand how a certain type of feature on a cell called an L-type calcium channel worked created a knockout mouse missing both copies of the CACNA1D gene. The CACNA1D gene makes a protein that lets calcium flow into a cell, transmitting important instructions from other cells. The knockout mice lived a normal life span, but their hearts beat slowly and arrhythmically. They were also completely deaf. Researchers have now identified a mutation on the CACNA1D gene affecting two families in Pakistan.

Ten years ago, scientists seeking to understand how a certain type of feature on a cell called an L-type calcium channel worked created a knockout mouse missing both copies of the CACNA1D gene.

The CACNA1D gene makes a protein that lets calcium flow into a cell, transmitting important instructions from other cells. The knockout mice lived a normal life span, but their hearts beat slowly and arrhythmically. They were also completely deaf.

On March 9 at the 55th Annual Biophysical Society Meeting in Baltimore, an international team led by Hanno Bolz of the University of Cologne in Germany presented research showing they had identified a mutation on the CACNA1D gene affecting two families in Pakistan. The altered gene adds one extra amino acid to the middle of the protein, which is more than 2,000 amino acids in length.

The result: Family members with two copies of the mutated gene are not only deaf but also have an irregular heart beat. "Their heart beats slowly, dropping below 30 beats a minute during sleep," says Joerg Striessnig, professor at the University of Innsbruck in Austria and one of the senior study authors.

The researchers analyzed the family's mutation and determined that it does not destroy the protein, says Striessnig. "Normally, part of the protein acts like a hinge to open the calcium channel once the cell gets stimulated. The mutated protein still sits in the cell's surface membrane where it should be, but the hinge does not open the channel," he says. "It's not only interesting for medicine but also for understanding how these channels work as molecular machines ."

This work was funded by The Geers-Stiftung, Bonn; Imhoff-Stiftung, Köln; Köln Fortune, University Hospital of Cologne, Deutsche Forschungsgemeinschaft; Forschung contra Blindheit: Initiative Usher Syndrome.V.; the Austrian Science Fund; the Agence Nationale pour la Recherche; the Fondation de France; the Marie Curie Research Training Network CavNET; and the University of Innsbruck.


Story Source:

The above story is based on materials provided by American Institute of Physics. Note: Materials may be edited for content and length.


Cite This Page:

American Institute of Physics. "New genetic deafness syndrome identified." ScienceDaily. ScienceDaily, 10 March 2011. <www.sciencedaily.com/releases/2011/03/110309112854.htm>.
American Institute of Physics. (2011, March 10). New genetic deafness syndrome identified. ScienceDaily. Retrieved April 16, 2014 from www.sciencedaily.com/releases/2011/03/110309112854.htm
American Institute of Physics. "New genetic deafness syndrome identified." ScienceDaily. www.sciencedaily.com/releases/2011/03/110309112854.htm (accessed April 16, 2014).

Share This



More Health & Medicine News

Wednesday, April 16, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Could Even Casual Marijuana Use Alter Your Brain?

Could Even Casual Marijuana Use Alter Your Brain?

Newsy (Apr. 16, 2014) — A new study conducted by researchers at Northwestern and Harvard suggests even casual marijuana use can alter your brain. Video provided by Newsy
Powered by NewsLook.com
Ebola Outbreak Now Linked To 121 Deaths

Ebola Outbreak Now Linked To 121 Deaths

Newsy (Apr. 15, 2014) — The ebola virus outbreak in West Africa is now linked to 121 deaths. Health officials fear the virus will continue to spread in urban areas. Video provided by Newsy
Powered by NewsLook.com
Cognitive Function: Is It All Downhill From Age 24?

Cognitive Function: Is It All Downhill From Age 24?

Newsy (Apr. 15, 2014) — A new study out of Canada says cognitive motor performance begins deteriorating around age 24. Video provided by Newsy
Powered by NewsLook.com
How Mt. Everest Helped Scientists Research Diabetes

How Mt. Everest Helped Scientists Research Diabetes

Newsy (Apr. 15, 2014) — British researchers were able to use Mount Everest's low altitudes to study insulin resistance. They hope to find ways to treat diabetes. Video provided by Newsy
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:
from the past week

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