New study may open doors for families with Parkinson’sKat WongAAPSun, 19 October 2025 5:01AM
Three generations of Amelia Dowe’s family have been diagnosed with Parkinson’s and while she harbours some worry for herself and her brothers, the 18-year-old isn’t scared.
“There’s no point for us to live in fear of what may or may not happen,” she told AAP.
“At the moment, there’s no tests, no anything to know if or when it will express.
“But hopefully there’s still a lot of time.”
Ms Dowe’s family can take heart from a new study that will investigate the impact of a common familial gene mutation associated with the disease.
Its cause is largely unknown but about 15 per cent of those diagnosed have a family history and this can result from genetic mutations, according to Johns Hopkins Medicine.
Most humans have two copies of every gene but mutation issues can result in some having three.
A triplication of the SNCA gene leads to too much of the protein alpha-synuclein, which clumps up in the brain cells.
This affects the energy produced by them and is a key sign of Parkinson’s disease.
Using reprogramming techniques, a team of researchers led by University of Wollongong Professor Lezanne Ooi will turn regular human cells into the specific brain cells impacted by Parkinson’s.
This will allow them to analyse the activity and energy levels in the brain cells, pointing them to how SNCA gene triplication affects them and contributes to the protein clumping.
The study could help identify the best ways to model Parkinson’s in the lab and diagnose people much earlier.
It took five years for Ms Dowe’s mother to receive a diagnosis, despite her family history.
Many neurologists didn’t believe Lindy Dowe because she didn’t present as a typical patient: an elderly white man with tremors.
Parkinson’s is better known for its motor symptoms like tremors, balance problems and limb stiffness,
However non-motor symptoms like loss of smell can occur almost two decades before a person shows signs of a movement disorder.
If it can be identified at these early stages, better models of Parkinson’s could then help accelerate the development of new therapies to stop, slow or reverse progression.
“So you could live with your Parkinson’s for the rest of your life but you’re never actually going to develop the disease,” said Vicki Miller, CEO of Parkinson’s foundation Shake It Up.
Ms Dowe hopes the research will mean she won’t have to endure the same process as her mother, should she have to cross that bridge.
But a clear diagnosis has paved the way for Lindy Dowe to take control of her life.
“It’s a degenerative disease, so there’s definitely uncertainty about the future and fear,” Amelia said.
“But for now, the diagnosis has opened doors to new medication and exercise regimes that have completely transformed mum’s movement and confidence.”
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