Research Update: MND Biomarkers

16 August 2022

My Name’5 Doddie Foundation is proud to have supported MND biomarker research at the University of Sussex in recent years. Our Research and Grants Officer, Olivia Bird, visited Dr Greig Joilin and Professor Majid Hafezparast to hear about the research and how it will make a difference to people living with MND.

Biomarkers are naturally occurring molecules or characteristics that can be measured to give an indication of health or disease. They have been a hot topic in MND research in recent years because the lack of early diagnostic tests in MND contributes to a delay in diagnosis of over 12 months in some cases. In the same way that cardiac troponin measured in the blood can indicate a heart attack, it is hoped that one day a single or group of biomarkers will be able to diagnose or rule out MND. Making the diagnostic process more efficient would allow people with MND to start treatment or enter clinical trials earlier in their disease. What’s more, the lack of prognostic biomarkers (those that can predict the course of disease) adds to the anxiety and uncertainty that affects people with MND and their families.

A biomarker of particular interest is a molecule called RNA. It is an essential component in the process of making proteins from our genetic material, DNA. However, not all RNA molecules are used to make proteins. These non-coding RNAs (ncRNA) have many other important roles in the body, and it’s thought that the level of ncRNAs in the blood could be affected by diseases, such as MND.

Greig and Majid are investigating whether levels of certain ncRNAs in the blood change throughout the course of MND, and therefore if they could be used to aid diagnosis and monitor disease. Using repeated, longitudinal blood samples collected from 30 people with MND, Greig has identified 34 ncRNA molecules, the levels of which change steadily over the course of disease. Interestingly, the levels appear to increase or decrease, depending on whether the person has slow or fast progressing disease. This data is promising for the potential prognostic ability of ncRNAs, aiding decision making when it comes to clinical care.

Blood tests are preferable to other tests used to monitor MND, because they are non-invasive, quick to perform and cost-effective. Furthermore, the techniques used for RNA extraction and analysis are widely used by health services already – quantitative PCR, the technique for quantifying RNA, is the same as that used to test for coronavirus. If found to be reliable, roll-out of this test is entirely feasible.

Further research is now ongoing to ensure that these changes in these ncRNA are consistent and robust in larger groups of people with MND, as well as to understand from which cell types the different ncRNAs are coming. This could provide valuable insights into the pathological mechanisms underlying the disease. In addition to aiding diagnosis and prognosis of disease, it is hoped that incorporating new biomarker measures into clinical trials will bring new treatments for MND to market more efficiently. Reliable and objective biomarker information will enhance data analysis and support applications to marketing authorities to approve new treatments.

Greig and Majid said: “This research is showing promise in potentially improving how MND is diagnosed and providing more certainty for people affected by MND. If we can show that what we see in this subset of people with MND translates to the wider group of people diagnosed with MND, then we will have additional tools that we can use for developing new treatments and running clinical trials. The challenges in obtaining continued research funding, which were exacerbated by the COVID-19 pandemic, nearly stopped this project, but the funding from the Foundation ensured the continuity of this research, and we are incredibly grateful to both the Foundation and all their supporters for their hard work in raising this money to allow us to do this research.”

We are grateful to Greig, Majid and other members of the Hafezparast lab for their continued commitment to uncovering biomarkers that could help people with MND during diagnosis and throughout their disease. We would also like to extend our thanks to the many people with MND who have donated blood for this vital research, and to our wonderful supporters without whom we could not fund this research.