A world-renowned charity founded by Hollywood star and Parkinson's sufferer Michael J Fox has put its weight behind a pioneering Kiwi project tackling the disease from a promising new angle.
Parkinson's is a progressive neurodegenerative condition caused by a lack of dopamine in the brain, resulting in slow and awkward movement.
Fox, best known for his roles in Back To The Future, Doc Hollywood and Spin City, partly retired from acting soon after going public with his own battle against the disease 20 years ago.
He has since gone on to become one of the world's best-known advocates for research toward finding a cure.
His Michael J Fox Foundation has just joined another United States charity, the Silverstein Foundation, in putting $226,000 toward a potentially ground-breaking New Zealand study.
That project focuses on a genetic mutation that poses one of the biggest risk factors for Parkinson's disease, which affects about one in 500 Kiwis and millions more around the world.
The specific gene involved is called glucocerebrosidase beta acid, or GBA.
Research has already shown how GBA mutations hamper an enzyme that helps clean out degraded or excess cell parts, before they can build up to cause the damage seen in Parkinson's disease.
The new study, led by University of Auckland Associate Professor Justin O'Sullivan, will draw on a powerful 3D genome-mapping tool created to reveal the connections of GBA to other genes.
Researchers think parts of the gene may be acting as "DNA switches" and disrupting the functioning of other genes that GBA comes into contact with through the way DNA is coiled inside cells.
DNA, the long molecules containing our entire genetic blueprint, are about two metres long when unwound, but packed into cell nuclei measuring only 100th of a millimetre across.
Through this coiling, segments that are far apart when the DNA is stretched out come into contact with each other.
O'Sullivan and his team are at the forefront of international efforts to show that these spatial connections can change the functioning of genes and potentially play a role in a wide range of diseases.
"We're coming at it from a totally different angle – we're looking into whether 'switches' inside GBA mutations turn up or down the functioning of other genes that they come into contact with," said O'Sullivan, a molecular scientist at the University of Auckland-based Liggins Institute.
"We think some of the more unusual findings about GBA might be able to be explained if it has connections to other genes," he said.
"If we are right, we will identify a network of inter-related Parkinson's genes.
"This may help advance research efforts for therapies, and bring together previously confusing or unrecognised connections."
His team has already applied its unique 3D genome-mapping tool, which relies heavily on computational analysis, to illuminate a previously unknown genetic driver in type 1 diabetes, and help explain why clusters of certain diseases and characteristics often go hand-in-hand in the same person.
Gaining a major grant from the high-profile Michael J Fox Foundation offered an "amazing opportunity" to investigate a disorder that had a huge impact on people.
"We hope to make insights that ultimately make a real difference to patients."
O'Sullivan said the project could also be a first step to better understanding other disorders.
The foundation's chief executive, Dr Todd Sherer, said defining the GBA pathway and its role in disease could point to new therapeutic approaches that may slow or stop Parkinson's.
"This partnership with the Silverstein Foundation streamlined the grant process to more quickly direct funding to these promising projects, speeding their efforts to help Parkinson's patients."
• Parkinson's is a progressive neurodegenerative condition caused by insufficient quantities of dopamine - a chemical in the brain. Parkinson's has both motor and non-motor symptoms, and while it cannot be cured, it can be treated.
• As Parkinson's is a progressive condition, it can often take many years to develop and has little effect on life expectancy.
• About one in 500 people have the condition. It becomes more common with older age groups, and it is believed 1 per cent of people above the age of 60 have Parkinson's.
• While the cause of the majority cases are unknown, about 10 per cent of people with Parkinson's are thought to have a genetic form of the condition.
Source: Parkinson's New Zealand