In a crucial step towards a better understanding of Meniere’s disease, researchers at the Kolling Institute and the University of Sydney have discovered a gene mutation which could greatly inform future treatment of the disease.
Meniere’s is a rare inner ear disease associated with sensorineural hearing loss, vertigo and debilitating tinnitus. There is currently no cure with treatment largely aimed at managing symptoms.
Meniere’s can be an inherited condition with approximately 10 per cent of patients having one or more relatives affected by it, but the latest research, led by world leading investigator Professor Jose Antonio Lopez-Escamez, indicates the inherited or genetic form of the disease may be more common than first realised.
His team has discovered a rare mutation of the GJD3 gene in both patients with and without a genetic history of the disease.
It is the first time this gene has been linked to any disease.
More than 400 people with Meniere’s disease were involved in the study, with 18 people or 4.4 per cent of the group found to have the genetic mutation, a statistically significant percentage.
Professor Lopez-Escamez said this new understanding could lead to a greater number of patients undergoing genetic testing.
“Many people will say that they don’t have the genetic form of the disease, but this research indicates there are many more people whose disease is directly linked to their genetic make-up,” he said.
“This is important as it will inform how we treat the disease going forward, particularly given the different forms of the disease and the exciting advances with gene therapy.
“Groundbreaking gene therapy is already being adopted internationally to treat hearing loss, and we anticipate this approach will be developed further to treat Meniere’s disease in the years to come.”
The latest research by Professor Lopez-Escamez and his team also identified a connexin (or connecting protein) linked to the GJD3 gene in the tectorial membrane of the organ of Corti – or the hearing organ.
“This is the first time that a connexin has been found in this part of the ear, and it may support the view that connexins regulate the microenvironment in the ear and influence hearing,” he said.
“We believe the mutated gene is impairing the function of the connexins within the ear and impacting hearing ability.
“We are pleased to have made this exciting progress and we look forward to further investigating the role of this gene mutation in hearing function and Meniere’s disease.”
The research has been published in the prestigious Genome Medicine journal.