Photo: Image from a confocal microscope of the inner ear. Photo credit: Prof. Keren Avraham and Shachar Tiber
September 30, 2020
News1
One of the genes, called ATOH1, has been found for the first time in the world to be involved in deafness. Family members in Israel are the first people in the world to have a mutation discovered in this gene – which is responsible for hearing loss.
Among the Jewish population in Israel, science has so far known of seven genes involved in hearing loss. Now, thanks to a new study led by Dr. Tzipi Braunstein and Prof. Keren Avraham of the Sackler Faculty of Medicine at Tel Aviv University and in collaboration with researchers and physicians from medical centers across the country, the United States and the Palestinian Authority, the number of genes involved in hearing impairment has jumped to 32. Immediate therapies for genetic counseling, treatment and rehabilitation of the hearing impaired In addition, researchers from Tel Aviv University identified in one Israeli family a first mutation in a gene that was hitherto unknown in the world as being involved in hearing impairment. The groundbreaking study was recently published in the journal Clinical Genetics.
More than 150 genes are known to science to be involved in hearing loss, but the mutations in these genes are very different in their distribution among populations around the world, and also among Jews from different ethnicities. Among the Jewish population in Israel, seven of the 150 known genes were recognized as responsible for the various defects. Now, in a study that included 88 families of Jews in Israel suffering from hearing impairments, the research team from Tel Aviv University was able to identify 25 more genes. The discovery is of crucial importance regarding the treatment of the hearing impaired in Israel.
24 of the 25 genes added in the Jewish population are genes known to the deaf in the world, but most of the mutations found by the researchers are new and unique to the Jewish population in general and some, to certain testimonies in particular. The additional gene, called ATOH1, has been found for the first time in the world to be involved in deafness. Members of one family in Israel are the first humans in the world to have a mutation discovered in this gene – which is responsible for hearing loss.
“It is known to be an important gene in the ear,” explains Prof. Avraham, “because without it hair cells cannot form – the same cells we hear about. In fact, the gene is also responsible for brain cell production – so in its absence the child will die in the womb before birth. Science on a mutation at the end of this gene that causes hearing loss, but only in mice. We found a similar mutation among members of one large family in Israel – the first humans in the world with a mutation in ATOH1. , With mutations in this gene, and new treatment options will be developed for those suffering from hearing loss as a result of the congenital mutation – which include gene healing. “
Prof. Avraham adds: “We conducted a large survey among a Jewish population in Israel that suffers from hearing impairments to varying degrees. For this purpose, we used advanced technology of deep genetic flooring and built a genetic test called HEar-Seq, which allows scanning of mutations in all 150 genes known to be involved in hearing loss. , And several dozen other genes that have a role in the hearing system and therefore have the potential to be involved in deafness. Such an examination makes it possible to understand the distribution of genes and mutations that cause hearing impairments in the entire Jewish population in Israel, and in the various testimonies in particular.
Using the test, we looked for mutations in the relevant genes in 88 families of Israeli Jews with various problems of hearing loss, from congenital deafness to hearing loss in adulthood, and identified mutations in 25 other genes that were not previously known to the Jewish population. This is an important discovery with immediate therapeutic consequences, including genetic counseling, prevention of additional cases in the family with the help of prenatal diagnosis or in vitro fertilization, and in many cases also treatment and rehabilitation tailored to the specific gene in the family. The findings of the study enable physicians in Israel to provide customized treatment to patients suffering from hearing loss as a result of genetic mutations. “
