Every month the Research Information team looks at ‘the stats’ for the MND Research blog. These show us how many times each of our blogs are looked at and, every month, ‘Physical activity and MND – is there a link?’ features in the top five. This is possibly driven by media stories of professional sportspeople who have been diagnosed with MND. As we receive a lot of emails about this subject, we felt it was about time for an update as ‘the stats’ suggest this is a topic close to people’s hearts.
This is the first of three blog articles looking at MND and physical activity and other factors that may, or may not, play a role in the development of the disease.
‘Big data’ projects require detailed analysis of unimaginably large volumes of complex data. This is especially true in the realm of MND gene discovery when searching for MND-associated genes – where the greater the number of samples analysed, the greater the possibility of finding the relatively less frequently occurring genetic causes (known as ‘rare’ variants). Literally a needle in a haystack.
These discoveries are no less important, as each new discovery is highly significant and provides another piece of the puzzle in our understanding of the causes and avenues to target for potential treatments. A clear example of this is collecting and mining the data from tens of thousands of human ‘genomes’ to identify the genes responsible for MND. By working together, researchers can greatly increase their ability to tease out the difficult to find discoveries.Read More »
Physical activity has always been at the forefront of factors associated with MND, but studies investigating its effect have often been conflicting. The reason why we might see contrasting results is often due to different cohorts and numbers of people included in the study, the method by which the data was collected, or the types of questions asked and the way they were presented. Increased number of studies on the same topic might then improve the way these are conducted in the future and provide more reliable conclusions.
The most recent multi-centre study that included over 1,500 people with MND and nearly 3,000 control participants was conducted by the Euro-MOTOR consortium under the leadership of Prof Leonard van den Berg. Today (24 April), the group published a paper on their findings in the Journal of Neurology, Neurosurgery and Psychiatry . The study collected data using thorough questionnaires, presented to Dutch, Irish and Italian participants either face-to-face or on paper, asking about their exposure to smoking, alcohol, and the type and amount of physical activity throughout their lifetime – both occupational and leisure. A score was then assigned to each person based on the amount of energy expenditure each activity requires – this is called metabolic equivalent of task (MET).Read More »
In recent news, a number of press releases highlighted a paper published in the journal Cell, in which scientists, under the leadership of the University of Toronto’s Professor Peter St George-Hyslop, and in collaboration with University of Cambridge, described the process of how the FUS protein leads to the development of motor neurone disease (MND) and frontotemporal dementia (FTD).
MND and FTD – what is the connection?
We know that there is a link between MND and FTD, which in most part is caused by a mutation in the C9ORF72 gene, causing familial MND in around 35% cases and FTD in 25% of cases. Mistakes in the gene disrupt normal processes leading to toxic accumulation of TDP-43 protein in the neurons, and their subsequent death. There is however another protein toxic to neurons which results in the development of MND and FTD – the one that makes it slightly easier for us science writers to come up with witty titles: FUS (see one of our previous articles ‘What’s the FUS all about’).Read More »
This article was written by our Senior Clinical Fellow Prof Martin Turner, a Consultant Neurologist at John Radcliffe Hospital, Oxford.
“Will it affect my children?” This is one of the questions most commonly asked by people diagnosed with MND. The 20th century answer was a simple “no”, or at least “very unlikely”. With recent scientific advances, however, doctors must give a more complicated answer. At the same time, these advances are cause of excitement about the greater understanding of MND and new hope for treatments for all cases.Read More »
There is recent evidence to suggest that Human Endogenous Retroviruses (HERVs) may be involved in amyotrophic lateral sclerosis (ALS). HERV-K has been directly linked to motor neurone damage and has been found in the brain tissue of patients with ALS.
The MND Association recently awarded a small grant to fund part of the ‘Lighthouse Project’ which is investigating the safety and any beneficial effects of an antiretroviral drug on ALS symptoms.Read More »
Conferences and symposia are a crucial part of the research world – not only for the amount of knowledge that is communicated to large audiences but also for the exchange of ideas on a more inter-personal level. Novel ideas are created there as well establishment of collaborations that might lead to new research projects and clinical trials – all in all, putting a bunch of researchers in a venue with a projector, coffee and biscuits can only lead to good things!
One of the recent events that I had the pleasure to attend was a small-scale conference – the Mini-Symposium on generic disease mechanisms in MND and other neurodegenerative disorders. Held at the Brighton and Sussex Medical School in late June, this event was a precursor to the inauguration of a new MND Care and Research Centre for Sussex, directed by Prof Nigel Leigh.Read More »
In April 2016, Dr Jackie Mitchell gave a talk at the Regional Conference in Gatwick to explain the aims of her three year MND Association funded research project. We have now received her second year report. In this blog we explain a little bit more about what she’s been doing. She has already made some good progress.
A little bit of background
One known genetic cause of MND is a defect in the TARDBP gene, which makes the protein TDP-43, that can be found in the nucleus of a healthy cell. The nucleus is the part of the cell that contains all our DNA. Healthy cells also have two major ‘waste disposal systems’ which break down and remove unwanted proteins from cells. More information on the role of TDP-43 in MND can be found on our blog.Read More »
In April this year MND clinician-researchers Professors Martin Turner and Kevin Talbot at the University of Oxford organised an information day about the rare, inherited form of MND called ‘Families for the Treatment of Hereditary MND’ (FATHoM). The day was filmed and podcasts of the talks have recently become available. This article gives an overview of each talk and a link to the video.Read More »
We are delighted to announce that Dr Arpan Mehta has been appointed as our latest Lady Edith Wolfson Fellow, jointly funded by the MND Association and Medical Research Council. This clinical research training fellowship will help to launch his career as an aspiring academic neurologist, providing comprehensive training in cellular, molecular and bioinformatics technologies in a world-class environment.Read More »