World-First Blood Test For Parkinson's
News Apr 22, 2016
Currently no clinical biomarker test exists for Parkinson's and the only means of diagnosis is a neurological examination. By the time patients develop symptoms and undergo the exam, large numbers of vital brain cells have already been destroyed.
La Trobe's blood test will enable doctors to detect with unprecedented reliability the abnormal metabolism of blood cells in people with Parkinson's, which will allow them to provide treatment options much earlier.
The US-based Michael J. Fox Foundation for Parkinson's Research (MJFF) and its local funding partner, the Shake It Up Australia Foundation, have granted La Trobe more than $640,000 to further develop the diagnostic blood test. The test could be available to the public in as little as five years if sufficient additional funds can be raised for its rapid development.
An estimated 80,000 Australians and more than 6.3 million people worldwide are affected by Parkinson's, which can severely impair mobility and quality of life.
La Trobe Professor of Microbiology Paul Fisher said so far, the blood test has been trialled on a small test group of 38 people (29 with Parkinson's and a control group of nine) with great reliability.
'This is a really exciting discovery. Parkinson's is a debilitating disorder and currently there is no cure. However, early diagnosis and treatment could enable better outcomes and a greater quality of life for people with the condition, which will be of great benefit to sufferers and their families,' Professor Fisher said.
'The MJFF grant will allow us to extend our study so we can discover new ways to help diagnose and monitor progression of the disease. It is even possible that the blood test could be developed to detect all types of neuro-degenerative disorders, including Alzheimer's.'
When the next stage of testing is complete, the sample will total about 100 people: 70 with Parkinson's and a control group of 30.
Shake It Up CEO Ben Young said his organisation was delighted to be co-funding the research.
'We hope this is the start of a long and productive relationship with La Trobe University that will improve the lives of people with Parkinson's,' Mr Young said.
'We would also like to thank our friends at Parkinson's Victoria who have committed over $160,000 to Shake it Up to support the project.'
This research was thanks to a collaboration between La Trobe's Microbiology and Psychology departments.
Diseases such as Parkinson's and Alzheimer's have long been believed to involve malfunction of cell mitochondria – which are the cells' energy factories.
About a decade ago, Professor Fisher's lab discovered that a permanently switched on 'alarm' at the cellular level could be responsible for symptoms in many incurable conditions involving defective mitochondria.
This led to an important new understanding of how mitochondrial defects damage cells – namely that it is a signalling disorder, rather than a fundamental energy insufficiency as previously thought.
'We realised this had important implications for understanding many different forms of mitochondrial disease, as well as most major neurodegenerative disorders,' he said.
Professor Fisher said he and his team demonstrated for the first time (using a laboratory organism called Dictyostelium, or Dicty) that an energy- and stress-sensing protein, known as AMPK, was permanently activated in mitochondrially diseased cells.
When energy production was compromised, this protein began signalling and interfering with other signalling pathways, causing cell functions to shut down.
Professor Fisher's team then joined forces with Dr Danuta Loesch-Mdzewska, Dr Sarah Annesley and other collaborators to extend their studies in Dicty to cells from Parkinson's disease patients.
The results were both dramatic and surprising.
Professor Fisher said in people with Parkinson's, something causes their cells to become 'hyperactive', which in turn increases the production of toxic oxygen by-products and over time damages vital cells in the brain.
Apart from developing a definitive blood test, Professor Fisher said further work on differences in blood cells from Parkinson's patients and healthy control groups might also open a window to the underlying mechanisms of the disease.