Gene Responsible for Common Hearing Loss Identified for 1st Time

A gene responsible for the single most common cause of hearing loss among white adults, otosclerosis, has been identified for the first time, a scientist told the annual conference of the European Society of Human Genetics in Nice, France. Melissa Thys, from the Department of Medical Genetics, University of Antwerp, Belgium, says that this finding may be a step towards new treatments for otosclerosis, which affects approximately 1 in 250 people.

Otosclerosis is a multifactorial disease, caused by an interaction of genetic and environmental factors. The outcome is a progressive hearing loss as the growing bone in the middle ear interrupts the sound waves passing to the inner ear. While the causative factors remain unknown, now one of the genetic components has been identified, Thys told the conference.

“The gene in which the variant is located points to a pathway that contributes to the disease. This may be a lead for better forms of treatment in the future; currently the best option is an operation. However, there is often an additional component of hearing loss which can’t be restored by surgery. As the gene involved is a growth factor, and the disease manifests itself by the abnormal growth of bone in the middle ear, it may have a large potential for therapy”, she said. Improved understanding may also lead to prevention strategies.

Thys and her team decided to study a gene called TGBF1 which they already knew had non-genetic indications of involvement in otosclerosis: it plays a role during embryonic development of the ear and is expressed in otosclerotic bone. They used SNP (single nucleotide polymorphism) analysis, or looking at DNA sequence variations occurring in a single nucleotide, A, T, C or G, to study a large patient and control population from Belgium and The Netherlands.

They found significant results for an amino acid changing SNP inTGBF1, and that this remained
significant after correcting for multiple testing. Analysis of a large French group showed the same association.

“Combining the data from both groups with a common odds ratio gave a very significant result, from which we were able to conclude that we were the first to identify a gene that influences the susceptibility for otosclerosis”, says Thys. “And, as further evidence, we were also able to show that a more active variant of this gene is protective against the disease.”

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Device Combats Hearing Loss, Says Research Institute

Addressing what it calls a spiraling hearing-loss epidemic, developers at the Hollins Communications Research Institute (HCRI) have introduced a hand-held safety device, Ear3, that signals when hazardous noise puts users at risk of permanent hearing damage.

According to the institute's executive director, Dr. Ronald Webster, Ear3 was created to reduce the incidence of people experiencing hearing loss from repeated exposure to workplace noise, loud music, machinery and recreational equipment.

The National Institute on Deafness and Other Communication Disorders reports that 28 million Americans have some hearing loss, with more than one-third attributed to noise-induced causes.

"As consumers, we use bicycle helmets for head protection, sunglasses for eye protection, and seatbelts for accident protection. We need to take our hearing just as seriously," Webster says.

Today, audiologists are not only treating the growing senior population, but are seeing more people in their 30's and 40's than ever before. In addition, the surge in MP3 players and loud car stereo use is contributing to increased hearing loss among youth.

A February study commissioned by the American Speech- Language-Hearing-Association revealed that more than half of high school students surveyed who used MP3 players reported at least one symptom of hearing loss.

The National Institutes of Health reports that regular exposure to sound pressure at 85 decibels (such as restaurant or city traffic noise) for an extended length of time can produce permanent hearing damage. Noises created by motorcycles, mowers and loud MP3 players are far more damaging with limited unprotected exposure.

Webster points out that few people realize the risk of exposure to hazardous sounds. That's where the Ear3 can help. Unlike other devices that measure decibel levels, Ear3 is a hearing-threat detector that signals when noise exceeds safe listening levels.

About the size of an iPod, Ear3 is designed with a sound chamber that simulates a human ear canal for accurate sound readings when using ear buds or headsets, and when evaluating sounds from more distant sources.

HCRI is a non-profit organization based in Roanoke, Virginia that develops innovative stuttering treatments and advances in hearing assistance. The Ear3 device, developed by HCRI, is being produced and distributed by Ear3 LLC.

Colored lights indicate sound safety levels so the user can take immediate action by using ear plugs, adjusting sound volume, or changing environments. For more information on the Ear3, visit http://www.ear3.info