New study uses state-of-the-art technology to examine link between gene mutation and neurodegenerative disease
A University of Wollongong (UOW) research team led by Professor Lezanne Ooi is investigating how a rare genetic mutation contributes to the development of Parkinson's disease.
Funded by the Shake It Up Foundation and the Michael J Fox Foundation for Parkinson's Research, the project will examine the neurodegenerative disease through a genetic lens, focusing on how a mutation of the SNCA gene, which is abundant in the brain and produces the protein alpha-synuclein, impacts the development of Parkinson's.
Professor Ooi and her team at UOW's Molecular Horizons will use cutting-edge technology to grow brain cells in the lab to study how they are affected by the mutation. The findings may open the door to new treatments.
People typically have two copies of every gene. However, some people with Parkinson's disease have extra copies of SNCA, known as gene multiplication. These multiplications are rare and have been found mainly in families with inherited forms of Parkinson's disease and related conditions. SNCA multiplication leads to much higher levels of the alpha-synuclein protein in the brain, which causes toxic build-up and can contribute to symptoms of the disease.
"By studying how an inherited genetic change impacts the function of specific brain cells, we hope to unlock vital clues that will allow us to develop more effective treatments," Professor Ooi said.
"Although having three or four copies of the SNCA gene is rare, sticky clusters of the alpha‑synuclein protein it produces are a hallmark of Parkinson's disease. By studying what happens in brain cells when this gene is overactive, we can see more clearly how too much alpha‑synuclein harms nerve cells.
"It's a bit like turning up the volume on the disease process, allowing us to pinpoint what goes wrong and explore ways to stop or slow it down."
The team will use advanced cellular reprogramming techniques to turn regular human cells into the specific brain cells affected by Parkinson's – neurons, astrocytes and microglia. By mapping the cells' energy and activity levels, the researchers will pinpoint exactly how SNCA multiplication changes cell behaviour.
