Parkinson's disease breakthrough: Scientists publish new findings

In a new Parkinson's disease research breakthrough, scientists have developed a technique that allows them to detect a key signature of the disease in the brain and body cells of living people.

The technique is called a-synuclein seeding amplification assay, and it can detect an abnormal protein linked with Parkinson's disease in both symptomatic and non-symptomatic people. This means it has the potential to act as an early alarm system for people who might not realize they face a high risk of developing Parkinson's.

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"(a-synuclein seeding amplification assay) enables us to move to another level in effecting new strategies for prevention of disease," said principal investigator Dr. Ken Marek in a media release issued on April 13.

Parkinson's disease is a progressive brain disorder that causes unintended or uncontrollable movements, such as shaking, stiffness, and difficulty with balance and co-ordination. It can also lead to behavioural changes, sleep problems, depression, memory loss and fatigue.

A study detailing the breakthrough was published in the medical journal The Lancet Neurology on April 12.

According to the authors, the assay can confirm the presence of abnormal alpha-synuclein, also known as Parkinson's protein, in most people with Parkison’s with an accuracy rate of 93 per cent. The test was abnormal in less than five percent of people without Parkinson’s.

Alpha-synoclein is a protein normally found in the nervous system that, like amyloid in Alzheimer's disease, can start to misfold and clump together, damaging neurons and causing Parkinson's disease to develop. That is when it's considered abnormal alpha-synuclein.

Until now, scientists have only been able to confirm the presence of abnormal alpha-synuclein clumps in deceased patients through postmortem analysis. According to the study, being able to detect this Parkinson's biomarker in live patients could allow specialists to diagnose the disease and begin interventions earlier than ever. The researchers said it could potentially have the added benefit of keeping some newly diagnosed patients from ever advancing to full-blown symptoms.

The new technique takes advantage of a characteristic of abnormal alpha-synuclein in which it causes nearby, normal alpha-synuclein to also misfold and clump. For the assay, spinal fluid samples are prepared with a fluorescent contrast agent that lights up if alpha-synuclein clumps form.

Normal alpha-synuclein is then added to the spinal fluid sample. If abnormal alpha-synuclein is present in the sample, clumps form among the newly-introduced normal alpha-synuclein and the dye lights up. If there's no alpha-synuclein in the sample, no clumps form and the dye doesn’t light up.

The biomarker breakthrough was achieved by an international coalition of scientists as part of a large clinical study funded by the Michael J. Fox Foundation called the Parkinson’s Progression Markers Initiative (PPMI).

"We've never previously been able to see in a living person whether they have this alpha-synuclein biological change happening in their body," Todd Sherer, chief mission officer at the Michael J. Fox Foundation said in a media release, adding that by helping identify people in the earliest stages of Parkinson's, "we could then study what happens at different biological stages of the disease."

The Michael J. Fox Foundation aims to find a cure for Parkinson's disease through an aggressively funded research agenda, which includes large, open data studies like the PPMI.

Fox was diagnosed with early-onset Parkinson's Disease in 1991 at 29 years old and established the foundation in 2000.

"I’m moved, humbled and blown away by this breakthrough, which is already transforming research and care, with enormous opportunity to grow from here," Fox said in a media release published on April 13.

"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."