Satellite Banner
Genomics
Scientific Community
 
Become a Member | Sign in
Home>News>This Article
  News
Return

Researchers Discover Gene That Causes Deafness

Published: Wednesday, October 03, 2012
Last Updated: Wednesday, October 03, 2012
Bookmark and Share
University of Cincinnati scientists have found a new genetic mutation responsible for deafness and hearing loss associated with Usher syndrome type 1.

These findings, published in the Sept. 30 advance online edition of the journal Nature Genetics, could help researchers develop new therapeutic targets for those at risk for this syndrome.
 
Partners in the study included the National Institute on Deafness and other Communication Disorders (NIDCD), Baylor College of Medicine and the University of Kentucky.
 
Usher syndrome is a genetic defect that causes deafness, night-blindness and a loss of peripheral vision through the progressive degeneration of the retina.
 
"In this study, researchers were able to pinpoint the gene which caused deafness in Usher syndrome type 1 as well as deafness that is not associated with the syndrome through the genetic analysis of 57 humans from Pakistan and Turkey,” says Zubair Ahmed, PhD, assistant professor of ophthalmology who conducts research at Cincinnati Children’s and is the lead investigator on this study.
 
Ahmed says that a protein, called CIB2, which binds to calcium within a cell, is associated with deafness in Usher syndrome type 1 and non-syndromic hearing loss.
 
"To date, mutations affecting CIB2 are the most common and prevalent genetic cause of non-syndromic hearing loss in Pakistan,” he says. "However, we have also found another mutation of the protein that contributes to deafness in Turkish populations.
 
"In animal models, CIB2 is found in the mechanosensory stereocilia of the inner ear—hair cells, which respond to fluid motion and allow hearing and balance, and in retinal photoreceptor cells, which convert light into electrical signals in the eye, making it possible to see,” says Saima Riazuddin, PhD, assistant professor in UC’s department of otolaryngology who conducts research at Cincinnati Children’s and is co-lead investigator on the study.
 
Researchers found that CIB2 staining is often brighter at shorter row stereocilia tips than the neighboring stereocilia of a longer row, where it may be involved in calcium signaling that regulates mechano-electrical transduction, a process by which the ear converts mechanical energy—or energy of motion—into a form of energy that the brain can recognize as sound.
 
"With this knowledge, we are one step closer to understanding the mechanism of mechano-electrical transduction and possibly finding a genetic target to prevent non-syndromic deafness as well as that associated with Usher syndrome type 1,” Ahmed says.
 
Other researchers involved in the study include Thomas Friedman, PhD, and Inna Belyantseva, MD, PhD, from the NIDCD; Suzanne Leal, PhD, and her team at Baylor; and Gregory Frolenkov, PhD, and his team at the University of Kentucky.
 
This study was funded by the NIDCD, the National Science Foundation and the Research to Prevent Blindness Foundation.


Further Information

Join For Free

Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 4,000+ scientific posters on ePosters
  • More than 5,300+ scientific videos on LabTube
  • 35 community eNewsletters


Sign In



Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into TechnologyNetworks.com you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

MicroRNA Pathway Could Lead to New Avenues for Leukemia Treatment
Cancer researchers at the University of Cincinnati have found a particular signaling route in microRNA (miR-22) that could lead to targets for acute myeloid leukemia, the most common type of fast-growing cancer of the blood and bone marrow.
Thursday, April 28, 2016
Energy Sensor Identified As Potential Target for Cancer Drugs
An international research team formed by a University of Cincinnati (UC) cancer researcher has shown for the first time that a specific enzyme is responsible for sensing the available supply of GTP, an energy source that fuels the uncontrolled growth of cancer cells.
Monday, January 11, 2016
UC Develops Unique Nano Carrier to Target Drug Delivery to Cancer Cells
Researchers have developed a unique nanostructure that can, because of its dual-surface structure, serve as an improved “all-in-one tool” against cancer.
Thursday, October 31, 2013
Scientific News
Big Genetics in BC: The American Society for Human Genetics 2016 Meeting
Themes at this year's meeting ranged from the verification, validation, and sharing of data, to the translation of laboratory findings into actionable clinical results.
Cancer Genetics: Key to Diagnosis, Therapy
When applied judiciously, cancer genetics directs caregivers to the right drug at the right time, while sparing patients of unnecessary or harmful treatments.
Tissue Damage Is Key for Cell Reprogramming
Researchers have shown tissue damage is important for cells to return to an embryonic state for cell reprogramming.
Improving Drug Production with Computer Model
A model has been developed that can be used to improve and accelerate the production of biotherapeutics, cancer drugs, and vaccines.
New Form of Autism Found
An international team of researchers have identified a new form of syndromic autism.
Accelerating the Detection of Foodborne Bacterial Outbreaks
The speed of diagnosis of foodborne bacterial outbreaks could be improved by a new technique developed by researchers at the Georgia Institute of Technology.
Scientists Identify Unique Genomic Features in Testicular Cancer
The findings may shed light on factors in other cancers that influence their sensitivity to chemotherapy.
Top 10 Life Science Innovations of 2016
2016 has seen the release of some truly innovative products. To help you digest these developments, The Scientist have listed their top picks for the year.
Secret Phenotypes: Disease Devils in Invisible Details
Algorithmic deep phenotyping exposes masses of hidden traits and possible subtle genetic connections relevant to unseen influences on disease.
Hunting the Missing Link Between Genetics and the Environment
The International Phenome Centre Network (IPCN) works to transform healthcare through phenomics - the dynamic interactions between our genes and our environment.
Skyscraper Banner

SELECTBIO Market Reports
Go to LabTube
Go to eposters
 
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
4,000+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
5,300+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!