The new discovery provides a tool for the early diagnosis of Parkinson’s disease.
In April, new research marked an important breakthrough in understanding Parkinson’s disease. An international group of scientists led by The Michael J. Fox Foundation has discovered a biomarker for Parkinson’s disease. This biomarker can now serve as a tool for early diagnosis of Parkinson’s disease, including for people who do not yet show symptoms.
What is a biomarker and what does this mean for Parkinson’s disease diagnosis?
A biomarker is a measurable biological substance found in the blood, tissues, or bodily fluids. Biomarkers are used to indicate normal or abnormal biological processes or the presence of a disease, infection, or other condition. The form a biomarker takes may range from a gene found in one’s DNA to a protein or hormone detected in the bloodstream.
In this case, researchers have developed a tool—called the α-synuclein seeding amplification assay (αSyn-SAA)—that can identify the presence of an abnormal protein in the brain and body that is a known indicator of Parkinson’s disease. By finding a biomarker for Parkinson’s, researchers and doctors will be better able to detect who has the disease or has a high risk of developing it, leading to earlier diagnosis and treatment.
What is the alpha-synuclein protein?
This recent research confirmed that the αSyn-SAA tool accurately identifies the presence of abnormal alpha-synuclein protein, sometimes referred to as the “Parkinson’s protein.”
The alpha-synuclein protein is normally found in the nervous system, both in the brain and throughout the rest of the body. In people with Parkinson’s, the protein begins to misfold and clump, similar to the amyloid protein in Alzheimer’s disease. The protein buildups caused by these abnormal alpha-synuclein proteins damage brain cells and disrupt communication between the neurons in the brain and the rest of the body, causing the various symptoms of Parkinson’s disease.
“We’ve never previously been able to see in a living person whether they have this alpha-synuclein biological change happening in their body,” says Todd Sherer, PhD, chief mission officer at The Michael J. Fox Foundation (MJFF). Being able to detect this before symptoms even begin to show is a groundbreaking step forward in diagnosis and treatment.
How does the new tool work?
The αSyn-SAA tool can detect abnormal alpha-synuclein protein in spinal fluid—both in people who have been diagnosed with the disease and in people who have not yet developed symptoms.
How does the assay tool work? First, researchers prepare a spinal fluid sample by adding a solution that contains a fluorescing agent—a substance that will light up in the presence of certain chemicals or conditions. In this case, the solution will light up if clumps of alpha-synuclein proteins start to form.
The test works based on researchers’ prior knowledge that abnormal alpha-synuclein proteins cause nearby healthy proteins to misfold and clump. After preparing the sample, researchers introduce normal alpha-synuclein to the spinal fluid, and if abnormal proteins are present, they will cause the normal proteins to clump and the fluorescing agent will light up. If the sample doesn’t contain abnormal alpha-synuclein proteins, the newly introduced healthy proteins will not clump and the agent won’t light up.
The test indicates the presence of abnormal alpha-synuclein protein with incredible accuracy. Researchers found that 93% of people with Parkinson’s who participated in the study were shown to have abnormal alpha-synuclein protein based on the assay test. The test showed false positives in less than 5 percent of people without Parkinson’s who participated.
This discovery is especially significant because the assay was validated on a large group of spinal fluid samples, and very few tests for neurologic disorders are more than 90% accurate.
The Benefits of Early Diagnosis and Treatment
In recent decades, research has made significant strides in improving diagnosis and delaying disability for people with Parkinson’s. “When I started in the field, we would think in terms of people having considerable problems 5 to 10 years after diagnosis,” says Lisa Shulman, MD, director of the University of Maryland Movement Disorders Center and a neurologist specializing in Parkinson’s disease. “Today it’s quite common to see people who are 15 or more years after diagnosis who live active lives—not to say asymptomatic, but they’re able to maintain a good lifestyle in many cases.”
The new αSyn-SAA tool joins prior tools like the Syn-One Test—which identifies the presence of abnormal alpha-synuclein via a skin biopsy—and subjective clinical assessments. Technology like the αSyn-SAA tool will enable doctors to use an objective measure to identify people in the earliest stages of Parkinson’s disease. Early detection leads to earlier, more targeted treatments, making them more effective in delaying the onset or slowing the progression of disease. This research offers hope that in the future, individuals with an early diagnosis could avoid developing more advanced symptoms.
The Importance of Research
This recent discovery has been deemed a “game-changer” because it opens up opportunities for future research breakthroughs. For example, further research may be able to optimize the biomarker test to measure how much alpha-synuclein is present or find a way to test for the abnormal protein through a blood draw, skin biopsy, or nasal swab. It also has the power to accelerate clinical drug trials and research on better treatments for Parkinson’s disease.
The American Brain Foundation is currently working with The Michael J. Fox Foundation to fund similar research to identify a biomarker for Lewy body dementia. Lewy body dementia is a disease with a similar pathology to Parkinson’s and Alzheimer’s—it is also caused by a buildup of misfolded proteins. When there is a breakthrough in detection or treatment for one of these diseases, those insights can often be applied to research on related diseases as well.
Because of these connections, funding research across disease categories can lead to greater innovation and better treatments. The Foundation’s approach of “Cure One, Cure Many” highlights the understanding that a cure for one brain disease can lead to a better understanding of other diseases—and ultimately more cures.
The American Brain Foundation knows that when we find the cure to one brain disease, we will find cures to many others. Learn more about the brain disease research we fund, or donate today to support the cures and treatments of tomorrow.