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Skin Swab Test Could Help Diagnose Parkinson’s

By: Ashra Khan

Parkinson's disease (PD) is an already prevalent neurodegenerative disease that is poised to double over the next 25 years in the US and more than double in developing countries of Asia and South America. It is important to stress that the natural history of PD is variable. If untreated, approximately 80% of patients with subsequently diagnosed definite PD become severely disabled or die 10 to 14 years after the onset of the disease.

Current medical and surgical treatment options have significantly improved the quality and length of life for patients with PD. Despite these great advances, PD still typically progresses to diminished responsiveness to dopamine replacement therapies and the development of dyskinesias.


Scientists at The University of Manchester have developed a technique that works by analyzing compounds found in sebum – the oily substance that coats and protects the skin – and identifying changes in people with Parkinson’s Disease. Sebum is rich in lipid-like molecules and is one of the lesser-studied biological fluids in the diagnosis of the condition. People with Parkinson’s may produce more sebum than normal – a condition known as seborrhea.


Researchers have developed a new, non-invasive test to diagnose Parkinson’s disease which relies on a simple skin swab. The test analyses sebum, the oily substance that coats and protects the skin. People with Parkinson’s often have increased production of sebum. The researchers identified 10 compounds within sebum that were either elevated or reduced in people with Parkinson’s.


The research has been funded by charities in the UK and the Michael J. Fox Foundation as well as The University of Manchester Innovation Factory. The work was originally funded following observation by Joy Milne, whose husband was diagnosed with Parkinson’s at the age of 45.


Working with Dr. Tilo Kunath at the University of Edinburgh, Joy demonstrated an incredible ability to distinguish a distinctive Parkinson’s odor in individuals using her sense of smell, even before symptoms emerge in those affected.


The team, led by Professor Perdita Barran, The University of Manchester, and the clinical lead Professor Monty Silverdale at Salford Royal Foundation Trust, recruited 500 people with and without Parkinson’s. Samples of sebum were taken from their upper backs for analysis.


Using different mass spectrometry methods, 10 chemical compounds in sebum were identified which are elevated or reduced in people with Parkinson’s. This allows scientists to distinguish people with Parkinson’s with 85 percent accuracy.


The team confirmed their earlier findings published in ACS Central Science that the volatile compounds on the skin can be used to diagnose the condition, increasing the number of people sampled and including participants from the Netherlands, as well as the UK.


In a new study, high-resolution mass spectrometry was used to profile the complex chemical signature in the sebum of people with Parkinson’s and show subtle but fundamental changes as the condition progresses.


Detailed analysis showed changes in people with Parkinson’s in lipid (fat) processing and mitochondria. Problems with mitochondria – the tiny energy-producing batteries that power cells – are one of the hallmarks of Parkinson’s.


This means this ‘world first’ testing strategy is not only useful in diagnosing Parkinson’s but also in monitoring the development of the condition. The skin swab could provide an incredibly important new tool in clinical trials helping researchers measure whether new, experimental treatments can slow, stop or reverse the progression of Parkinson’s.


The study unveiled novel diagnostic sebum-based biomarkers for Parkinson’s provides insight into the understanding of how the condition develops and links lipid dysregulation to altered mitochondrial function.


These promising results published today could lead to a definitive test to diagnose Parkinson’s accurately, speedily, and cost-effectively. The team is now seeking funding to further develop the test and explore the potential for using the test to ‘stratify’ patients.


Working with the University of Manchester Innovation Factory, the team has patents filed for their diagnostic techniques and is planning to create a spin-out company to commercialize the new tests. They are also working to use this approach to develop tests for COVID-19 as shown in research last week in EClinical Medicine as well as other conditions and are actively seeking investors interested in supporting the drive to bring this technology to market.


Parkinson’s tends to develop gradually and it may be many months, even years before the symptoms become obvious enough for an individual to visit their GP. A DaTscan is regularly used to help specialists confirm the loss of dopamine-producing cells that cause the development of Parkinson’s.


However, a similar loss may also occur in some other rarer neurological conditions. With no molecular test for the condition, a diagnosis is made by a neurologist based on a combination of symptoms such as tremor, slowness, stiffness, and balance issues. However, many of the symptoms of Parkinson’s can overlap with other conditions, especially in the early stages when progression is gradual and symptoms are more subtle.


Results published today show it is possible to identify Parkinson’s based on compounds found on the surface of the skin. The findings offer hope that a pioneering new test could be developed to diagnose the degenerative condition through a simple and painless skin swab. This could help many people who have been diagnosed with PD live better and healthier lives.



References:

1. Eleanor Sinclair, Drupad K Trivedi, Depanjan Sarkar. Metabolomics of sebum reveals lipid dysregulation in Parkinson’s disease. Nature Communications. 2021.

2. Poewe WH, Wenning GK. The natural history of Parkinson’s disease. Neurological Sciences. 1996.

3. Schrag A, Jahanshahi M, Quinn N. How does Parkinson’s disease affect quality of life? A comparison with quality of life in the general population. Movement Disorders. 2000.

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