Love them or loath them, the band Steps’ first single ‘5,6,7,8’ was a techno line dance song released in 1998 from their debut album ‘step one’, with the B side ‘words of wisdom’.
Using this forced and purely tenuous link and an equally awkward segue, I would like to share with you the news that the journal Neurology this week published further words of wisdom from Professor Adriano Chio, Professor Ammar Al-Chalabi and colleagues, that revisits the multistep hypothesis of MND. Their previous work showed that when no genetic cause is considered, developing MND is a six-step process. In their most recent work, the team investigated how many of the steps does a genetic mutation account for in this multistep process, with a focus on the most common MND causative genes SOD1, TARDBP, and C9ORF72.Read More »
It has been almost a year since we announced that AMBRoSIA (AMulticentre Biomarker Resource Strategy In ALS) had begun to recruit participants (read the Autumn 2017 edition of Thumbprint).
AMBRoSIA is the biggest project that the MND Association has ever funded and recruitment occurs at three sites throughout the UK (Sheffield, headed by Prof Dame Pam Shaw, Oxford, headed by Prof Martin Turner and London, headed by Dr Andrea Malaspina).
The project will collect a number of biological samples, including blood, cerebrospinal fluid (CSF), urine and skin in order to identify biomarkers (markers of biological change) that could be a signature of MND.Read More »
This is the final blog article in our trio of blogs that are looking at physical activity and MND. The first two have addressed the questions ‘did the amount of physical activity I undertook before my diagnosis cause my MND?’ and ‘can I continue with physical activity after my diagnosis, or will this make my MND worse?’
Despite the evidence reported by Visser and colleagues, which showed an increase of 6% in the risk of developing MND in people with high activity levels (discussed in the first of these blogs), there is limited evidence to support a relationship between physical activity and the development of MND, that is, what exactly is it about physical activity that would lead to MND-specific neurodegeneration. The available evidence tends to suggest it is more likely that there are other, as yet unidentified, factors associated with physical activity that might drive the risk. However, several credible explanations for how exercise could directly cause MND have been proposed and studied and we are going to take a more in-depth look at some of these here.Read More »
This is part two of our series of blogs looking at links between physical activity and MND. This article will look at whether or not exercise should be continued after diagnosis.
Exercise is widely recommended to the general population due to its benefits to health and wellbeing. It improves the cardiovascular, respiratory, musculoskeletal, and endocrine functions and leads to psychological wellbeing. Many people with MND specifically ask whether they can safely continue to exercise regularly without fear of accelerating their disease. At present, there is no firm evidence that exercise exerts a harmful effect, although avoidance of very strenuous activity would seem to be sensible. Low-grade, managed, exercise programmes may even be of benefit.Read More »
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 »
In a study published in Nature Neuroscience this week, a collaboration led by Dr. Jemeen Sreedharan and colleagues from King’s College London, the Babraham Institute and the University of Cambridge have published a new mouse model of Motor Neurone Disease (MND).
The study takes advantage of cutting edge gene editing technology called CRISPR/CAS9 to generate a mouse model of the human disease that accurately mimics a genetic component found in some people affected by MND. The researchers used the gene editing technology to precisely change (mutate) the gene that the body uses to produce the protein TDP-43, a very important player in the MND story implicated in almost all cases of MND.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 »