Genetic research into Meniere’s disease is underway, led by Jose Antonio Lopez-Escamez
Meniere’s Disease is a rare inner ear disorder causing hearing loss, vertigo and tinnitus. If you have trouble following a conversation, have dizzy spells or have a constant ringing in your ears, you can imagine how debilitating all three together would be.
Professor Jose Antonio Lopez-Escamez moved from Spain to Sydney over three years ago to lead the Meniere’s Disease Neuroscience Group at the University of Sydney. The team carries out research at the Kolling Institute at Royal North Shore Hospital in association with Northern Sydney Local Health District.
The team is investigating the genetic factors that contribute to Meniere’s and taking steps to develop gene therapy, which would be a real game-changer for sufferers of the progressive disease, for which there is no cure.
“This is a complex disorder and there are different subgroups, but the main contribution is genetics,” Antonio tells NL. “We already know that about 40% of patients, even if they don’t have any relatives with the disease, are likely to have a recessive inheritance. About 10% of patients with Meniere’s disease already have a relative with Meniere’s.”
The team has discovered a rare mutation of the GJD3 gene in both patients with and without a genetic history of the disease, the first time this gene has been linked with any disease.
The disease can develop in different ways. Some people may develop hearing loss over several years, beginning at a low frequency so that they do not realise they have hearing loss, explains Antonio.
“The condition starts in the inner ear, in the cortex, which is a sensory organ, but later affects also the auditory nerve,” he says. “Hearing loss can progress until it’s very difficult to understand conversations, especially in noisy environments.”
“The most disabling symptom is vertigo,” says Antonio. “This is a major concern as people cannot work or drive.”
Because there’s no cure for Meniere’s, managing symptoms is the only option.
Antonio says they try and control the vertigo attacks with a sedative, but avoiding some triggers also helps. Some patients might get headaches or have allergies which can cause vertigo. Noise is another trigger.
“Low frequency noise, such as traffic or an aircraft could be the trigger of the disease at the beginning,” says Antonio. “So, people should take care to prevent noise exposure.
“One of the more disabling issues is when patients cannot tolerate noise and can develop psychological symptoms like anxiety, a sleep disorder and even depression.”
Hearing loss can also create isolation, he says, because they cannot follow a conversation.
Antonio originally specialised in Ear Nose and Throat and then did a PhD in neuroscience with research on the vestibular system. His work on vestibular and audiology disorders led him to realise that Meniere’s was probably the most severe type of vestibular condition. He has now dedicated over 20 years to researching it.
Most patients that Antonio sees are of European descent, mainly the UK, Ireland, the Netherlands, or Central Europe. He thinks a genetic mutation emerged in European ancestry thousands of years ago. His team is the only team carrying out genetic studies on Meniere’s patients and he said they need more patients for the research.
If you would like to find out more or get involved in The Meniere’s research at the Kolling Institute, email menieresaustralia@sydneyedu.au