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OnMedica - News
Gene therapy involving antibiotics could help deaf children with an inherited defect from losing their sight, suggests preliminary research published today.
The findings, which were presented to the annual conference of the European Society of Human Genetics in Barcelona, Spain, today, show that the approach might be worth exploring further after promising laboratory results.
Researchers from the Genetics Department of the Rappaport Faculty of Medicine, Technion, Haifa, Israel, tested the capacity of aminoglycosides to treat sight loss caused by type 1 Usher syndrome (USH1).
Usher syndrome is a recessively inherited disease, meaning that the child receives a mutated form of the Usher gene from each parent.
Around 3 to 6% of all children who are deaf and a further 3 to 6% who are hard of hearing have it. In developed countries, about four babies in every 100,000 are born with the syndrome.
Children with USH1 begin to develop visual problems in early childhood, and these develop quickly into the eye disorder retinitis pigmentosa, which results in total blindness.
The researchers were able to produce partial suppression of the mutations in vitro of the PCDH15 gene, which is responsible for Usher syndrome, using commercial aminoglycosides. The same result was achieved in cultured cells.
“Despite these promising results, the most serious problem with aminoglycosides is their toxicity to the kidney and to the inner ear,” says lead researcher Ms Rebibo Sabbah.
The researchers tested more than 40 new compounds in the hopes of finding one that was as effective but less toxic. They found a suitable candidate, which has so far only been tested in mice.
This is the first time that this approach has been tried in Usher syndrome, say the researchers, who plan to look at another USH1 related gene (CDH23).
The researchers hope that their work will lead to treatments to delay the progression and, indeed, the onset of sight loss in patients with Usher syndrome.
“Because it is recessively inherited, this is a particularly invidious disease”, says Ms Rebibo Sabbah.
“In most cases, parents have normal hearing and vision and are not aware that they are carriers of Usher syndrome. But if they have a child with another carrier, they will have a one in four chance of having a child with the condition at each birth,” she says.
Gene therapy involving antibiotics could help deaf children with an inherited defect from losing their sight, suggests preliminary research published today.
The findings, which were presented to the annual conference of the European Society of Human Genetics in Barcelona, Spain, today, show that the approach might be worth exploring further after promising laboratory results.
Researchers from the Genetics Department of the Rappaport Faculty of Medicine, Technion, Haifa, Israel, tested the capacity of aminoglycosides to treat sight loss caused by type 1 Usher syndrome (USH1).
Usher syndrome is a recessively inherited disease, meaning that the child receives a mutated form of the Usher gene from each parent.
Around 3 to 6% of all children who are deaf and a further 3 to 6% who are hard of hearing have it. In developed countries, about four babies in every 100,000 are born with the syndrome.
Children with USH1 begin to develop visual problems in early childhood, and these develop quickly into the eye disorder retinitis pigmentosa, which results in total blindness.
The researchers were able to produce partial suppression of the mutations in vitro of the PCDH15 gene, which is responsible for Usher syndrome, using commercial aminoglycosides. The same result was achieved in cultured cells.
“Despite these promising results, the most serious problem with aminoglycosides is their toxicity to the kidney and to the inner ear,” says lead researcher Ms Rebibo Sabbah.
The researchers tested more than 40 new compounds in the hopes of finding one that was as effective but less toxic. They found a suitable candidate, which has so far only been tested in mice.
This is the first time that this approach has been tried in Usher syndrome, say the researchers, who plan to look at another USH1 related gene (CDH23).
The researchers hope that their work will lead to treatments to delay the progression and, indeed, the onset of sight loss in patients with Usher syndrome.
“Because it is recessively inherited, this is a particularly invidious disease”, says Ms Rebibo Sabbah.
“In most cases, parents have normal hearing and vision and are not aware that they are carriers of Usher syndrome. But if they have a child with another carrier, they will have a one in four chance of having a child with the condition at each birth,” she says.