Signs of motor neurone disease (MND) were seen up to 14 years before patients experience symptoms, according to a new Scottish study.
MND is an illness in which signals from the brain are stopped from reaching the body. The devastating illness is terminal and, sadly, there is no cure. It is the same disease English physicist Stephen Hawking suffered from.
University of Aberdeen researchers found that the same proteins thought to contribute to MND can be found in the gut many years before brain symptoms crop up. Although commonly misunderstood to only affect the brain, the disease affects other parts of the body - particularly occur in the gut, with changed bowel habits and weight loss.
The findings have led researchers to suggest it could be possible to detect and act on MND long before the brain is affected by taking a small gut biopsy or stool sample.
In a bid to gain a wider understanding of the condition, researchers in collaboration with the University of Edinburgh, studied historically banked tissue biopsies to search for signs of MND.
The study revealed proteins associated with MND are present in the gut, skin, lymph nodes and other tissues often years before these patients presented with symptoms.
"I believe this is a significant finding for our wider understanding of this disease," said the study's lead Dr Jenna Gregory of the University of Aberdeen.
"The early detection of disease could be a critical missing step in our attempts to cure this disease – if disease markers are present outside of the brain it could pave the way for non-invasive early detection."
Despite extensive clinical trials there is currently only one licensed drug which has been shown to increase the lifespan of people with MND by only a few months.
Researchers say one possible explanation for unsuccessful drug trials is that by the time someone has symptoms of the disease, it may be too late for successful intervention.
"MND is a devastating disease, with those being diagnosed surviving a mean of 3-5 years," added Dr Mathew Horrocks from the University of Edinburgh.
"This work shows that it's possible to observe hallmarks of the disease in easily accessible tissue more than a decade prior to the first symptoms. This could pave the way to earlier diagnosis, extending the therapeutic window, leading to an eventual cure to MND.
"This work also highlights the fantastic tissue resources available in Scotland and exemplifies the strength of interdisciplinary research at the Chemistry-Medicine interface in Edinburgh and Aberdeen."
The study was published in The Journal of Pathology: Clinical Research.
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