U-M scientists find gene for low-frequency hearing loss

November 20, 2001

ANN ARBOR, Mich. - An international research team, led by University of Michigan Medical School scientists Marci Lesperance, M.D., and Margit Burmeister, Ph.D., has identified a gene responsible for an unusual type of hearing loss called low frequency sensorineural hearing loss.

U-M researchers discovered that children who inherit one copy of the mutated gene called WFS1 gradually lose their ability to hear low-frequency sounds. The hearing loss becomes more severe over time, and eventually hearing aids are required. Patients with different types of mutations affecting both copies of the gene develop Wolfram Syndrome 1 - a rare, devastating condition involving juvenile diabetes, optic atrophy, and often deafness and psychiatric illness.

The wider significance of this discovery is that mutations in this gene may be a common cause of low-frequency hearing loss in the general population, even in those who may be unaware that their hearing loss could be inherited.

Results of the study appear in the October 22, 2001 issue of Human Molecular Genetics, published online Nov. 20 at the journal's web site: http://hmg.oupjournals.org/

"Discovering a new gene and its related protein gives scientists another piece of information to increase their understanding of inner ear development and function," says Lesperance, an assistant professor of otolaryngology-head and neck surgery in the U-M Medical School. "These proteins are produced in tiny amounts in the inner ear or cochlea - an area that is inaccessible for tissue sampling and difficult to study."

Lesperance's research team worked closely with Burmeister and Irina Bespalova of U-M's Mental Health Research Institute, as well as collaborators at the University of Antwerp and Rockefeller University, to identify mutations in six families from the United States and the Netherlands with a history of low frequency hearing loss.

"Affected individuals in each family had one of five minor variations called missense mutations in their WFS1 gene," says Burmeister, an associate professor of psychiatry and of human genetics in the U-M Medical School and senior associate research scientist in the U-M Mental Health Research Institute. "Even though these mutations changed just one amino acid in the string of 890 amino acids that make up the protein, it was enough to produce progressive hearing loss."

One of the most challenging parts of the study was locating families with this type of hearing loss. "People who can't hear low-frequency sounds may not be aware of it, because their ability to understand speech isn't affected," adds Lesperance. "So it's possible that this type of hearing loss is more common than we think. Many people in these families did not know about their hearing loss until they went to a rock concert and temporarily lost hearing in the high frequencies, as well."

Lesperance believes there may be a connection between mutations in WFS1 and the more common form of progressive sensorineural hearing loss involving high-frequency sounds like human speech. While family members with WFS1 mutations had low-frequency hearing loss as children, they often lost the ability to hear high-frequency sound as they got older. "High-frequency hearing loss is caused by aging, noise exposure or drug toxicity, but mutations in WFS1 might make people more susceptible," she says.

Lesperance also wants to explore possible involvement of the WFS1 gene in Meniere's Disease - a common, disabling condition that combines periodic attacks of low-frequency hearing loss with severe vertigo and tinnitus, or ringing in the ears.
The study was funded by the National Institutes of Health, the U-M Biomedical Research Council, the University of Antwerp and the Flemish FWO, the Starr Center for Human Genetics and the American Hearing Research Foundation.

Collaborators from the University of Michigan included Irina N. Bespalova, Ph.D., former research investigator, now an assistant professor of psychiatry at Mount Sinai School of Medicine; David J. Brown, M.D., house officer in otolaryngology; Ayse E. Erson, a graduate student in human genetics; Purnima Kurnool, former research associate; and Theru A. Sivakumaran, Ph.D., research fellow in otolaryngology. From the University of Antwerp in Belgium, collaborators included Guy Van Camp, Kim Cryns, and Kris Flothmann. From the University of Nijmegen in The Netherlands, they included Steven Bom, Henricus Kunst, and Cor W.R.J. Cremers. Andrew T. DeWan and Suzanne M. Leal from The Rockefeller University also collaborated in the study.

For more information on inherited hearing loss, please see the following web sites: http://www.med.umich.edu/childhearinginfo

University of Michigan Health System

Related Hearing Loss Articles from Brightsurf:

Proof-of-concept for a new ultra-low-cost hearing aid for age-related hearing loss
A new ultra-affordable and accessible hearing aid made from open-source electronics could soon be available worldwide, according to a study published September 23, 2020 in the open-access journal PLOS ONE by Soham Sinha from the Georgia Institute of Technology, Georgia, US, and colleagues.

Ultra-low-cost hearing aid could address age-related hearing loss worldwide
Using a device that could be built with a dollar's worth of open-source parts and a 3D-printed case, researchers want to help the hundreds of millions of older people worldwide who can't afford existing hearing aids to address their age-related hearing loss.

Understanding the link between hearing loss and dementia
Scientists have developed a new theory as to how hearing loss may cause dementia and believe that tackling this sensory impairment early may help to prevent the disease.

Study uncovers hair cell loss as underlying cause of age-related hearing loss
In a study of human ear tissues, scientists have demonstrated that age-related hearing loss is mainly caused by damage to hair cells.

Hair cell loss causes age-related hearing loss
Age-related hearing loss has more to do with the death of hair cells than the cellular battery powering them wearing out, according to new research in JNeurosci.

How hearing loss in old age affects the brain
If your hearing deteriorates in old age, the risk of dementia and cognitive decline increases.

Examining associations between hearing loss, balance
About 3,800 adults 40 and older in South Korea participating in a national health survey were included in this analysis that examined associations between hearing loss and a test of their ability to retain balance.

Veterinarians: Dogs, too, can experience hearing loss
Just like humans, dogs are sometimes born with impaired hearing or experience hearing loss as a result of disease, inflammation, aging or exposure to noise.

Victorian child hearing-loss databank to go global
A unique databank that profiles children with hearing loss will help researchers globally understand why some children adapt and thrive, while others struggle.

Hearing loss, dementia risk in population of Taiwan
A population-based study using data from the National Health Insurance Research Database of Taiwan suggests hearing loss is associated with risk of dementia.

Read More: Hearing Loss News and Hearing Loss Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.