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Discovery of another gene that causes deafness

discovery of gene that causes deafness

After 22 years of study, scientists from the Netherlands say they have discovered another gene that causes deafness. 

Long-term Study Discovers Gene That Causes Deafness

This particular gene causes hereditary deafness in some families. It could account for as many as 30,000 such cases in Northwestern Europe alone. 

“[The gene] could account for as many as 30,000 such cases [of deafness] in northwestern Europe alone.”

Professor Hannie Kremer and Dr. Ronald Pennings worked together on this long project. Kremer is head of otogenetics research at Radbound University Medical Centre. Pennings is an ear, nose and throat surgeon at the same facility.

Their research focused on individuals whose hearing loss occurred at or around the age of 30. They were able to isolate and identify 12 families in whom hearing loss was caused by a single genetic defect. The team then concentrated their efforts on a single chromosome. From this, they focused on the specific gene that caused deafness in these subjects.

Read more: Researchers discover gene for sensorineural hearing loss

Scientists Interviewed

The scientists were recently interviewed for The Naked Scientist Podcast. On the show, Kremer explained that RIPOR2 gene codes for a protein in people with the gene mutation are shorter than would normally be expected. This translates to the hair cells in the inner ear. These are crucial to hearing. In fact, they’re more unstable in people with the gene mutation.

Pennings said that the usual way of treating deafness in the inner ear is by prescribing a hearing aid. However, the discovery of this gene could result in gene therapies specifically targeting it.

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Author Details
Phonak hEARo, Phil is an author, journalist and therapist, living on the beautiful North Yorkshire coast with his wife Raine and their three children. Phil was diagnosed in 2016 with mild to moderate Sensorineural hearing loss in both ears and tinnitus. He uses Phonak silver digital hearing aids with automatic volume controls.
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Phonak hEARo, Phil is an author, journalist and therapist, living on the beautiful North Yorkshire coast with his wife Raine and their three children. Phil was diagnosed in 2016 with mild to moderate Sensorineural hearing loss in both ears and tinnitus. He uses Phonak silver digital hearing aids with automatic volume controls.
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