A new multinational study led by Zippora Brownstein and Prof. Karen Avraham of the Sackler Faculty of Medicine at Tel Aviv University is helping to better understand the genetic cause of hereditary hearing loss.
For families with hearing loss and for the care of children with hearing loss, these results have direct implications for genetic counseling.
Recently, the groundbreaking research was published in Clinical Genetics by scientists from multiple Israeli universities and hospitals, the University of Washington, University of Maryland, US National Institutes of Health, Bethlehem University and the University of Iceland.
Science knows that more than 150 genes are involved in hearing loss. Until now, mutations in only seven of those genes had been discovered in people with hearing loss in Israel’s Jewish population.
In their study of 88 Israeli families with hearing loss – from congenital to old age, and from moderate to severe – the researchers identified mutations in 25 additional genes using a modified gene panel they created.
While 24 out of 25 genes are known to cause hearing loss in families around the world, most of the specific mutations in Israeli Jewish families have never been observed before. The 25th gene, ATOH1, was first found to have a mutation that causes hearing loss in humans.
“We know that ATOH1 plays an important role in the ear,” explained Avraham. “Without it, the inner ear hair cells – the cells responsible for our hearing – cannot develop properly. Until now, a mutation in this gene has only been identified in mice with hearing loss. We found a similar mutation in hearing loss relatives in a large family in Israel – the first people in the world known to have a mutation in this gene. “
She believes more such families will be identified in Israel and beyond.
“The goal is to use this information to develop new treatment options for people with hearing loss, including gene therapy,” Avraham said. “For many families, treatment and rehabilitation for hearing loss can be tailored to the specific mutation in the family.”
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