Introduction
Joy Milne
Joy Milne, a now retired NHS nurse from Perth, Scotland possesses an extraordinary gift. In her own words, a real-life “super power”. Mrs Milne has become world renowned for this gift and is the catalyst for the titled paper of this review. Mrs Milne was born with a rare hereditary condition known as hyperosmia. An incredibly sensitive sense of smell. Over the years, as an active ward nurse for the NHS, Mrs Milne became exposed to a myriad of olfactory sensations, many of which undetectable to the average person. Through this exposure, she began to catalogue and document her experiences. She came to realise the volatiles in the air were intrinsic to the illnesses of the patients she cared for.
Joy met her husband to-be at the age of 16. As someone with a heightened sense of smell, she describes him as having a very “musky and manly” odour. However, suddenly at the age of 31 she notices an overwhelming change in her husbands scent. By 33 his familiar musk was all but gone. Joy had unknowingly diagnosed her husband. Astonishingly, it would be another 12 years before her husband was officially diagnosed with Parkinson’s disease. After her husband’s diagnosis, Joy began to accompany him to Parkinson’s meetings in Perth. It suddenly became very clear to Joy that everyone at the meeting shared an identical scent to her husband.
She described her ability to Dr Tilo Kunath from University of Edinburgh; Dr Kunath then worked with Perdita Barran, Professor of Mass Spectrometry at the University of Manchester. Amongst them, they devised an experiment to test Mrs Milne’s ability. Test subjects were required to wear T-shirts for 24 hours, some of whom were diagnosed with Parkinson’s and the others acted as the control group. The T-shirts were then sealed in bags and taken to be identified. To the amazement of everyone, Mrs Milne identified the T-shirts of all Parkinson’s sufferers.
Full Article: Discovery of Volatile Biomarkers of Parkinson’s Disease from Sebum
Paper Spray Ionization Ion Mobility Mass Spectrometry of Sebum Classifies Biomarker Classes for the Diagnosis of Parkinson’s Disease
Parkinson’s disease has shown an increase globally amongst many age groups, beyond the typical 60+. The need to identify biomarkers and methods to detect them is of the utmost importance and providing a diagnostic pathway that may be applied prior to the onset of motor symptoms is crucial.
A hallmark non-motor symptom of Parkinson’s is increased oily and flaky skin. The substance known as sebum which is present on all human skin shows increased levels in those suffering from Parkinson’s. The sebaceous glands produce sebum in the skin, which helps keep the skin and hair moisturized. It also plays a significant role in thermoregulation by preventing sweat from evaporating. The contents of this biofluid is primarily a mixture of triglycerides, cholesterol, free fatty acids, waxy esters and squalene. Researchers have set out to develop a method to analyse sebum in its native state, thereby facilitating rapid assessment and early diagnosis.
Other biofluids, such as blood and urine have been successfully analysed using paper spray ionisation mass spectrometry (PS-MS). However no known detection methods have included the analysis of sebum. PS-MS demonstrates clear advantages for inexpensive sampling and rapid analysis, coupled with paper spray ionization with ion mobility mass spectrometry (PS-IM-MS), may directly lead to methods utilised in clinical diagnostics. PS-IM-MS also allows quick sample analysis with minimal sample processing compared to LC–MS.
Conclusion
In conclusion, a new and accessible method to analyse sebum samples has been successfully developed and shown to be able to readily distinguish between samples taken from people with Parkinson’s versus matched controls. PS-IM-MS of each sebum sample can be performed in approximately 2 to 3 minutes. This is considerably faster than previous clinical mass spectrometry methods.
Furthermore, the principle investigators of this study have identified two classes of lipids as components of human sebum that are significantly differentially expressed in Parkinson’s Disease. The ability to conduct non-invasive sampling followed by PS-IM-MS analysis targeting these compounds could provide an inexpensive assay to support clinical diagnosis of Parkinson’s disease going forward.
Full Article
Depanjan Sarkar, Eleanor Sinclair, Sze Hway Lim, Caitlin Walton-Doyle, Kaneez Jafri, Joy Milne, Johannes P.C. Vissers, Keith Richardson, Drupad K. Trivedi, Monty Silverdale, Perdita Barran
Supplementary Material