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February 22, 2021Discovery of another 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.
