A woman who has a rare condition giving her a heightened sense of smell and who can sniff out Parkinson’s, has helped scientists develop a test to detect the disease. Now she’s working with scientists around the world to see if she can smell other diseases, such as cancer and tuberculosis (TB).
The test has been years in the making after academics realised that Joy Milne, from Perth, Scotland, could smell Parkinson’s.
The Independent reports that the 72-year-old noticed her late husband Les developed a different odour when he was 33 – some 12 years before he was diagnosed with the disease, which leads to parts of the brain becoming progressively damaged over many years.
She described a “musky” aroma, different from his normal scent. He died in 2015 aged 65.
Her observation piqued the interest of scientists who decided to research what she could smell and whether this could be harnessed to help identify people with the neurological condition.
Years later, academics at the University of Manchester have made a breakthrough by developing a test that can identify people with Parkinson’s disease using a simple cotton bud run along the back of the neck. Researchers use the sample to identify molecules linked to Parkinson’s to help diagnose whether someone has the disease.
While still in the early phases of research, scientists are excited about the prospect of the NHS being able to deploy a simple test.
There is currently no definitive test for Parkinson’s disease, with diagnosis based on a patient’s symptoms and medical history.
If the new skin swab is successful outside laboratory conditions, it could be rolled out to achieve faster diagnosis.
Milne said it was “not acceptable” that people with Parkinson’s had such high degrees of neurological damage by the time they get a diagnosis, adding: “I think it has to be detected far earlier – the same as cancer and diabetes, because earlier diagnosis means far more efficient treatment and a better lifestyle for people. It has been found that exercise and change of diet can make a phenomenal difference.”
She said her husband, a former doctor, was “determined” to find the right researcher to examine the link between odour and Parkinson’s and they sought out Dr Tilo Kunath at the University of Edinburgh in 2012. Kunath paired up with Professor Perdita Barran to examine her sense of smell.
The scientists believed the scent may be caused by a chemical change in skin oil, known as sebum, that is triggered by the disease.
In their preliminary work, they asked Milne to smell T-shirts worn by people who had Parkinson’s and those who did not.
She correctly identified the t-shirts worn by Parkinson’s patients but also said that one from the group of people without Parkinson’s smelled like the disease – eight months later that person was diagnosed with Parkinson’s.
The tests have been successfully conducted in labs and now scientists are assessing whether they can be used in hospitals and eventually by GPs.
The findings, published in the Journal of the American Chemical Society, detail how sebum can be analysed with mass spectrometry – a method which weighs molecules – to identify disease.
Some molecules are present only in people who have Parkinson’s disease.
Milne has described her sense of smell as a “curse and a benefit”.
“I have to go shopping very early or very late because of people’s perfumes, I can’t go into the chemical aisle in the supermarket,” she said. “So yes, a curse sometimes but I have also been out to Tanzania and have done research on TB and research on cancer in the US – just preliminary work.”
She said she can sometimes smell people who have Parkinson’s while in the supermarket or walking down the street but has been told by medical ethicists she cannot tell them.
Barran said: “At the moment, there are no cures for Parkinson’s, but a confirmatory diagnostic would allow them to get the right treatment and get the drugs that will help to alleviate their symptoms.
“There would also be non-pharmaceutical interventions, including movement and also nutritional classes, which can really help.
“And I think most critically, it will allow them to have a confirmed diagnosis to actually know what’s wrong with them.”
Study details
Paper Spray Ionization Ion Mobility Mass Spectrometry of Sebum Classifies Biomarker Classes for the Diagnosis of Parkinson’s Disease
Depanjan Sarkar, Eleanor Sinclair, Sze Hway Lim, Caitlin Walton-Doyle, Kaneez Jafri, Joy Milne, Johannes Vissers, Keith Richardson, Drupad K. Trivedi, Monty Silverdale, and Perdita Barran*
Published in the Journal of the American Chemical Society on 7 September 2022
Abstract
Parkinson’s disease (PD) is the second most common neurodegenerative disorder, and identification of robust biomarkers to complement clinical diagnosis will accelerate treatment options. Here, we demonstrate the use of direct infusion of sebum from skin swabs using paper spray ionization coupled with ion mobility mass spectrometry (PS-IM-MS) to determine the regulation of molecular classes of lipids in sebum that are diagnostic of PD. A PS-IM-MS method for sebum samples that takes 3 min per swab was developed and optimized. The method was applied to skin swabs collected from 150 people and elucidates ∼4200 features from each subject, which were independently analyzed. The data included high molecular weight lipids (>600 Da) that differ significantly in the sebum of people with PD. Putative metabolite annotations of several lipid classes, predominantly triglycerides and larger acyl glycerides, were obtained using accurate mass, tandem mass spectrometry, and collision cross section measurements.
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