Otosclerosis Gene Identified through New Research

Researchers have discovered the first gene that is connected to otosclerosis, a common cause of hearing loss that affects three million Americans.  

In a study that was published in Human Genetics, a team of researchers from Canada’s Memorial University and Western University identified the gene as FOXL1. This discovery indicates that there may be the imminent possibility of earlier diagnosis and advanced treatment options.  

How does Otosclerosis lead to Hearing Loss?

Patients who experience otosclerosis have an abnormal bone growth that causes the tiny bones, known as the stapes, to lack the ability to vibrate which is crucial to hear. The bones are unable to create sound waves that are supposed to travel to the inner ear, which is how hearing loss occurs. 

There is currently no cure for otosclerosis, which normally worsens over time. Many people who have this condition wear hearing aids or receive a surgical procedure where a prosthetic device is inserted into the affected ear. This prosthetic device conducts sound vibrations that travel to the inner ear.  

The Otosclerosis Gene

It’s already known that otosclerosis can be passed down from one parent to a child, so researchers only needed to locate a single gene mutation instead of a pair of genes. 

Gene mapping, along with advanced sequencing techniques, was utilized to separate DNA so that it could be analyzed. The mutation takes place in the FOXL1 gene. 

The new gene that is responsible for otosclerosis helps researchers better understand the biology of this bone disease while helping to figure out new drugs and therapies, or even stopping the condition from occurring.  

The FOXL1 gene was identified in a family from Newfoundland in eastern Canada by researchers in the field. The family was given a simple genetic test which identified members who were at risk and those who were not at risk of developing otosclerosis.      

A genetic test allows healthcare providers to verify whether a patient has otosclerosis. It’s recommended that family members of those with this condition should also take a test to find out if they have otosclerosis. 

Early Confirmation of Otosclerosis

Knowing whether you have otosclerosis through genetic testing before you begin to notice changes in your hearing, can allow you to seek early treatment options and prevent any worsening decline by protecting your hearing health. This can be beneficial for younger family members who have yet to show signs of hearing loss. Even if treatment is not necessary for these family members, it’s still helpful to understand why you and some of your family members are experiencing issues with hearing and know how to protect themselves from noise exposure.  

If you or a loved one are experiencing hearing loss for any reason, please contact us at Pure Sound Hearing for a complimentary hearing test and consultation. 

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