An international group of researchers has discovered a new tool that can reveal a key pathology of Parkinson’s disease in brain and body cells.
The identification of the new biomarker, known as abnormal alpha-synuclein, opens a new chapter for research, according to The Michael J Fox Foundation for Parkinson’s Research.
The foundation led the coalition and its landmark clinical study, Parkinson’s Progression Markers Initiative (PPMI).
The findings were published Wednesday in the scientific journal The Lancet Neurology.
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The tool, also known as the α-synuclein seeding amplification assay, is able to detect pathology in spinal fluid both for those diagnosed with the disease and individuals who are at high risk of developing it but have not yet been diagnosed or exhibited clinical symptoms.
The laboratory testing can confirm the presence of abnormal alpha-synuclein, which is detected in most people who have Parkinson’s with what the foundation said was “astonishing accuracy.”
Of those who participated in the testing, 93% were proven to have abnormal alpha-synuclein.
“We’ve never previously been able to see in a living person whether they have this alpha-synuclein biological change happening in their body,” Dr. Todd Sherer, chief mission officer at The Michael J. Fox Foundation, said in a statement.
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A protein normally found in the nervous system, alpha-synuclein — like amyloid in Alzheimer’s disease — can start to misfold and clump, damaging neurons and causing Parkinson’s disease to develop.
It has previously been possible to confirm the presence of the clumps solely through postmortem analysis. If abnormal alpha-synuclein is present in a spinal fluid sample, clumps form and the dye the sample is prepared with lights up.
The foundation notes the new tool “takes advantage of a telling characteristic of alpha-synuclein that is pathologic,” causing nearby, normal alpha-synuclein to misfold and clump.
The scientists tested some 1,123 samples of spinal fluid, showing the test was abnormal in fewer than 5% of people without Parkinson’s.
The foundation said there is “tremendous promise in optimizing” the assay to measure the amount of alpha-synuclein present.
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“I’m moved, humbled and blown away by this breakthrough, which is already transforming research and care, with enormous opportunity to grow from here,” Michael J. Fox said. “I’m so grateful for the support of patients, families and researchers who are in it with us as we continue to kick down doors on the path to eradicating Parkinson’s once and for all.”
Optimized assays would also detect abnormal synuclein through a blood draw or nasal swab.
The protein α-Synuclein has previously been linked genetically and neuropathologically to Parkinson’s disease.