PROTEINS thought to contribute to motor neurone disease can be found in the gut many years before any brain symptoms occur, research has shown.
A study by the University of Aberdeen, in collaboration with the University of Edinburgh and published in The Journal Of Pathology: Clinical Research, found evidence of the disease in one patient 14 years before they went on to develop the condition.
The researchers suggest it could be possible to detect motor neurone disease (MND) and take action long before the brain is affected by taking a small gut biopsy or stool sample.
Although often thought of as a disease affecting the brain, people with MND often have symptoms affecting other parts of the body, especially the gut, the researchers said. These symptoms can include altered bowel habits and weight loss.
MND is thought to be linked to the accumulation of certain proteins in the brain that inappropriately clump together, making the cells of the brain sick and causing problems with moving, breathing and thinking.
The research team studied historically banked tissue biopsies. The study revealed disease-associated proteins present in the gut, skin, lymph nodes and other tissues often years before these patients presented with symptoms.
Dr Jenna Gregory of the University of Aberdeen, who led the study, said: “I believe this is a significant finding for our wider understanding of this disease. Early detection 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, only one licensed drug has been shown to increase the lifespan of people with MND, and then by only a few months. The researchers say a possible reason for unsuccessful drug trials is that by the time someone has symptoms, it may be too late for successful intervention.
Dr Mathew Horrocks from the University of Edinburgh added: “The work shows 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.”
