Researchers from Monash University and the University of Melbourne have discovered how a genetic mutation causes people to lose their hearing in their early twenties.
Published in the American Journal of Pathology, the study, led by Professor Phillip Bird and Dr Dion Kaiserman from Monash University’s School of Biomedical Sciences, builds understanding of a genetic mutation discovered in 2010.
The mutation induces malfunction of an inhibitor, SERPINB6, which protects inner ear cells from destruction.
“We cannot yet identify how SERPINB6 mutation accelerates hearing loss, but affected people can lose their hearing in their twenties, rather than their sixties,” Professor Bird said.
Using animal models to mimic the progression of SERPINB6-accelerated hearing loss in humans, Dr Justin Tan from Melbourne University’s Department of Otolaryngology found that specialised hearing cells in the inner ear were affected. The sensory cells that detect sound and neighbouring fibrocytes that support them were destroyed.
Professor Bird said that the destruction of fibrocytes was uncommon and significant.
“We are finally beginning to understand the role of these proteins in protecting our hearing,” Professor Bird said.
The research was supported by the National Health and Medical Research Council of Australia.