The inherited or genetic form of Ménière’s disease may be more common than first realised, according to Kolling Institute researchers who have discovered a new gene mutation for the disease.
In a crucial step towards a better understanding of Ménière’s disease, researchers at the Kolling Institute and the University of Sydney discovered the mutation which they believe could greatly inform future treatment of the condition.
Meniere’s can be an inherited condition with about 10% of patients having one or more relatives affected by it. The new research, led by world leading Ménière’s disease researcher Professor Jose Antonio Lopez-Escamez, indicates the inherited or genetic form of the disease may be more common than first realised.
Prof Lopez-Escamez, an ENT surgeon and neuroscientist, is Professor of Ménière disease Neuroscience in the Faculty of Medicine and Health, School of Medical Sciences, The Kolling Institute, University of Sydney.
His team discovered a rare mutation of the GJD3 gene in both patients with and without a genetic history of the disease. They reported their findings in Genome Medicine on 15 January 2025.
It is the first time this gene has been linked to any disease.
More than 400 people with Ménière’s disease were involved in the study, with 18 people or 4.4% of the group found to have the genetic mutation, a statistically significant percentage.
Prof Lopez-Escamez said this new understanding could lead to more 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 Ménière’s disease in the years to come.”
Connexin linked in organ of Corti
The research also identified a connexin (connecting protein) linked to the GJD3 gene in the tectorial membrane of the organ of Corti (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 Ménière’s disease.”
Ménière’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.
Ear Science Institute Australia says while the prevalence and incidence of Ménière’s disease in Australia is unknown, it is estimated that about 40,000 Australians are affected.
Symptoms most commonly begin when people are in their 30s and it is rare for symptoms to begin after age 60. In about 40% of cases Ménière’s disease progresses to affect both ears.
Prof Lopez-Escamez moved from Spain to the University of Sydney to establish the Ménière-Neuroscience Laboratory at the Kolling Institute.
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