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The results published today show that it is possible to identify Parkinson’s disease from compounds found on the surface of the skin. The results offer hope that a pioneering new test could be developed to diagnose degenerative disease with a simple, painless skin swab.
Scientists at the University of Manchester have developed a technique that works by analyzing compounds in sebum – the oily substance that coats and protects the skin – and identifying the changes in people with Parkinson’s disease. Sebum is rich in lipid molecules and is one of the least studied biological fluids in the diagnosis of the disease. People with Parkinson’s disease may produce more sebum than normal – a condition known as seborrhea.
The research was funded by the Parkinson’s UK charities and the Michael J. Fox Foundation as well as the University of Manchester Innovation Factory. The work was originally funded following an observation by Joy Milne, whose husband was diagnosed with Parkinson’s disease at the age of 45. Working with Dr Tilo Kunath at the University of Edinburgh, Joy has demonstrated an incredible ability to distinguish a distinct Parkinson’s scent in people who use it. smell, even before symptoms appear in those affected.
The team, led by Professor Perdita Barran, University of Manchester, and Senior Clinical Professor Monty Silverdale, Salford Royal Foundation Trust, recruited 500 people with and without Parkinson’s disease. Sebum samples were taken from the upper back for analysis. Using different mass spectrometry methods, 10 chemical compounds in sebum have been identified that are elevated or reduced in people with Parkinson’s disease. This allows scientists to distinguish people with Parkinson’s disease with 85% accuracy.
The team confirmed their previous findings published in ACS Central Science that volatile compounds on the skin can be used to diagnose the disease, increasing the number of people sampled and including participants from the Netherlands, as well as the UK. .
In a new study published today in Nature Communications, high-resolution mass spectrometry was used to profile the complex chemical signature in the sebum of people with Parkinson’s disease and show subtle but fundamental changes as the disease progresses. A detailed analysis showed changes in people with Parkinson’s disease in the processing of lipids (fats) and mitochondria. Problems with mitochondria – the tiny batteries that make energy that power cells – are a hallmark of Parkinson’s disease.
This means that this “world first” testing strategy is not only useful for diagnosing Parkinson’s disease, but also for monitoring disease development. The skin swab could provide an incredibly important new tool in clinical trials, helping researchers measure whether new experimental treatments are able to slow, stop or reverse the progression of Parkinson’s disease.
The study unveiled new sebum-based diagnostic biomarkers for Parkinson’s disease, provides insight into how the disease develops, and links lipid deregulation to impaired mitochondrial function.
These promising results published today could lead to a definitive test to diagnose Parkinson’s disease with precision, speed and cost-effectiveness. The team is now seeking funds to further develop the test and explore the potential of using the test to “stratify” patients.
Together with the University of Manchester Innovation Factory, the team has filed patents for its diagnostic techniques and plans to create a spin-off company to commercialize the new tests. They are also working to use this approach to develop tests for COVID-19, as shown by last week’s research in clinical medicine as well as other conditions, and are actively seeking investors interested in supporting the drive to bring this technology to life. on the market.
Professor Perdita Barran, professor of mass spectrometry at the University of Manchester, said: “We believe our results are an extremely encouraging step towards tests that could be used to help diagnose and monitor Parkinson’s disease.
“Not only is the test quick, simple and painless, but it must also be extremely cost effective because it uses existing technology that is already widely available.
“We are now looking to take our results forward to refine the test to further improve accuracy and take steps to make it a test that can be used in the NHS and to develop more accurate diagnoses and better treatment for this condition. debilitating.
Parkinson’s disease tends to develop gradually, and it may take several months, or even years, before symptoms become obvious enough for a person to see their GP. A DaTscan is regularly used to help specialists confirm the loss of dopamine-producing cells that lead to the development of Parkinson’s disease. However, a similar loss can also occur in some other, more rare neurological conditions. In the absence of a molecular test for the disease, the diagnosis is made by a neurologist based on a combination of symptoms such as tremors, slowness, stiffness, and problems with balance. However, many symptoms of Parkinson’s disease can overlap with other conditions, especially in the early stages, when the progression is gradual and symptoms are more subtle.
In a recent Parkinson’s UK survey of more than 2,000 people with Parkinson’s disease, more than a quarter (26%) said they were wrongly diagnosed with a different disease before receiving the correct diagnosis of the disease. of Parkinson’s.
Professor David Dexter, Associate Director of Research at Parkinson’s UK, said:
“We are proud to have partially funded this groundbreaking research which marks an important step towards the development of a rapid and accurate test that can not only revolutionize the way we diagnose Parkinson’s disease, but also allow us to track it. course of this debilitating disease.
“Every hour two more people in the UK are diagnosed with Parkinson’s disease and a significant portion of those people may well have been misdiagnosed and treated for another disease before receiving their correct diagnosis. This worsened in the COVID-19 pandemic where people were left on hold and faced months of anxiety to confirm their diagnosis by a healthcare professional. However, with this innovative test, we were able to see people being diagnosed quickly and accurately, which gave them access to essential treatment and support to manage their Parkinson’s symptoms earlier. “
Daxa Kalayci, 56, lives in Leicester and was diagnosed with Parkinson’s disease in September 2019. She was misdiagnosed several times in four years before finally finding out she had the disease.
“I was wrongly diagnosed with anxiety, stress-related tremors and was told my problems were from menopause. I embarked on a 4 month cruise around the world not knowing I had Parkinson’s disease. Just two weeks into the trip, my symptoms worsened and my dream vacation turned into a nightmare.Without confirmation that it was Parkinson’s, which I had long suspected, I found myself with nasty side effects caused by different drugs prescribed to manage my symptoms.
“Although my diagnosis was finally confirmed by a DaTscan, a quick and easy diagnostic test for Parkinson’s disease would have given me the chance to start my treatment earlier and enjoy life much more. But instead, I wasted so many years not being able to continue. a career as a paramedic or return to nursing.
“This test could be a game-changer for people with Parkinson’s who are looking for answers like me. I am so happy with this news because it means that in the future people will no longer have to feel the pain. “The anxiety of multiple appointments, long wait times and sleepless nights. The sooner this test is available, the better. Anything that can help people looking for a diagnosis is a bonus.”
Reference: Sinclair E, Trivedi DK, Sarkar D et al. The metabolomics of sebum reveals lipid deregulation in Parkinson’s disease. Nat. Common. 2021; 12 (1): 1592. doi: 10.1038 / s41467-021-21669-4
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