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An international team of scientists led by researchers at the University of Western Australia has identified a molecular mechanism involved in the loss of hearing in humans and in other animals. The work, published today in Nature, is the first to demonstrate that a specific biological pathway involving a family of proteins is involved in the molecular changes that lead to impaired hearing. “Hearing loss is a relatively common condition in people, affecting about one in five Australians,” says the study’s lead author Professor Emma Hutchinson, UWA’s Claude and Doris Harris Professor of Hearing. “While the majority of people who lose their hearing have some other associated health condition, such as high blood pressure, diabetes, or cardiovascular disease, the loss of hearing is also a risk factor for stroke and dementia in older people.” Professor Hutchinson, whose team also included researchers from the universities of Milan and Zurich and the New Jersey Institute of Technology, says her research was based on the discovery of a new human gene that is strongly linked to hearing loss and the identification of a mouse mutant that has a genetic defect in a gene called Sema4A. advertisement “While a number of genes have been identified that are responsible for hearing loss in people, the cause of this condition in more than 90% of cases is unknown,” Professor Hutchinson says. “These rare causes of hearing loss are often genetic and can present with sudden hearing loss, or other symptoms such as tinnitus, a ringing in the ears, dizziness, and vertigo. “Our research demonstrates that genetic changes in a particular pathway involved in hearing loss can lead to a specific type of synaptic dysfunction that can be measured in mice.” Professor Hutchinson says the next step in her research is to investigate the pathway’s involvement in hearing loss in people. “We know that genetic changes in the Sema4A pathway in mice lead to changes in the density of hair cells – the cells in the cochlea that detect sound and transmit this information to the brain. “What we don’t know is whether the same pathway is involved in the hearing loss seen in people, and whether it leads to similar types of synaptic changes.” Professor Hutchinson says her team has demonstrated that the same Sema4A pathway is also important for the development of other neuronal systems in the brain, including the olfactory system, which

 

 


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