Gene responsible for otosclerosis identified
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Lead researcher Melissa Thys, from the University of Antwerp, Belgium, told the annual conference of the European Society of Human Genetics that this finding may be a step towards new treatments for otosclerosis, which affects approximately 1 in 250 people.
Ms Thys and her team studied a gene called TGBF1, which they already knew had non-genetic indications of involvement in otosclerosis: it plays a role during embryonic development of the ear and is expressed in otosclerotic bone.
They used a technique called SNP (single nucleotide polymorphism) analysis to study a large patient and control population from Belgium and The Netherlands, and to study a second group, from France. In both groups, patients with otosclerosis often had a specific variant in the TGBF1 gene.
Ms Thys said: "Combining the data from both groups gave a very significant result, from which we were able to conclude that we were the first to identify a gene that influences the susceptibility for otosclerosis.
"And, as further evidence, we were also able to show that a more active variant of this gene is protective against the disease."
Vivienne Michael, Chief Executive of Deafness Research UK, said: "The discovery of a gene for otosclerosis is very significant – about a million people in the UK are affected by this condition and because it commonly strikes when people are in their twenties and thirties, the effects can be devastating. At the moment the most common treatment is surgery but this finding opens the door to alternative therapies which would prevent or slow the abnormal bone growth that causes the condition.
"Deafness Research UK is giving high priority to funding genetic research into various forms of deafness and related conditions so this gives us great hope for the future. We are currently supporting scientists investigating the genes linked to age-related deafness. With over half of those over the age of 60 suffering hearing loss, the potential impact of this work is huge."