A Scottish woman named Joy Milne made headlines in 2015 for her ability to sniff out people with Parkinson's disease, a progressive neurodegenerative illness that is estimated to affect nearly a million people in the U.S. Scientists in the U.K. have been working with Milne to find the molecule that gives Parkinson's its distinctive smell. A simple skin-swab-based test has been created to detect a set of molecules specific to the disease.
People with hereditary hyperosmia have a sensitivity to smell. She was able to sense Parkinson's with her nose after she noticed her late husband was emitting a smell she had never seen before. She linked the change in scent to Parkinson's when he was first diagnosed. He died in 2015.
In 2012 Milne met Tilo Kunath, a neuroscientist at the University of Edinburgh in Scotland, at an event to raise money for Parkinson's UK. Kunath and his colleagues decided to put the claims to the test. She received 12 shirts from people with Parkinson's and six from healthy people. She correctly identified the disease in all six cases, and the one T-shirt from a healthy person she categorized as having Parkinson's belonged to a person who was later diagnosed with the disease.
Along with chemist Perdita Barran of the University of Manchester in England and her colleagues, Kunath has been searching for the molecule that changes smell. Mass spectrometry was used to identify the types and quantities of compounds in a sample of sebum. People with Parkinson's have changes to their cholesterol levels.
The results of a simple skin-swab-based test were revealed by the researchers in their latest study. The team zeroed in on a set of large lipids that could be detected in a matter of minutes using a special type of mass spectrometry in which substances are quickly transferred from a sample to an analyzer using just.
"I think it's a very promising set of markers, and I wasn't involved in the work." One of the big unanswered questions is how much this test can be. The September 7 study did not include an assessment of the accuracy of the Parkinson's signature. The test appears to be able to determine if an individual has Parkinson's with more than 90 percent accuracy according to Barran.
Tiago Outeiro, a neuroscientist at the University of Gttingen in Germany, who was not involved with the research, says the sebum-based test is novel and has clear advantages. Outeiro wonders if people with Parkinson's disease have the same chemical markers as people with other diseases.
The team is working with local hospitals to see if the test can be conducted in clinical labs. The hope is to use the test to identify individuals who have been referred to their neurologists by their general practitioners so they can get a quicker diagnosis. It will take two years to clear the list of people waiting to see a neurologist in the U.K. A skin-swab test could allow those patients to send in their skin samples to be analyzed in the hospital laboratory and find those who need help most quickly. Barran is trying to get people on the waiting list to take part in a trial to see if skin-swab tests can help speed up the process.
Barran and her colleagues are working with a group at Harvard University to determine if there are signs of Parkinson's in people who have not yet been diagnosed.
The disease's olfactory signature has inspired groups to look for markers. An electronic nose, an artificial-intelligence-based sensor modeled after the olfactory system, was described in a paper this year. The U.K., China, and other countries have been training dogs to detect the disease.
There are other diseases that Milne has a nose for. She is working with scientists to see if a specific olfactory signature of Alzheimer's and other diseases can be deduced.
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The hope is that this work will help patients with these conditions. Milne told Scientific American that her husband had Parkinson's for many years before he was diagnosed with the disease. I want people to not suffer the way he did.