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 »
Yesterday, we were delighted to unveil a new research collaboration that we believe will greatly improve the quality and pace of MND research – not only in understanding the cellular processes that cause motor neurons to degenerate, but also in helping with drug discovery and development.
The Amyotrophic Lateral Sclerosis Reproducible Antibody Platform (ALS RAP) isn’t anything to do with the musical genre. It isn’t really a research project either. Instead, it’s focusing on the importance of providing the scientific community with ‘gold standard’ tools for their research.
My name is Kiera Belson and I have just completed three days of work experience at the Motor Neurone Disease (MND) Association for an award called the Youth STEMM Award. This consists of doing different activities and experiences linked to the different STEMM sectors: Science, Technology, Engineering, Maths and Medicine. The work I have done at the MND Association has been linked to the Science and Medicine sectors.
During the time I spent here, I have learnt things about MND as well as researching a technique called induced Pluripotent Stem Cell (iPSC) technology (see below), which has been my main task over the three days. I have also learnt about the Research Development team and what they do at the Association, including management of the ‘UK MND Collections’, a resource of biological samples from people with MND, and the different categories within this: the DNA bank, the cell lines collection and the epidemiology collection.Read More »
On the way to work last Wednesday, a story on BBC Radio 4 – ‘Today programme’ suddenly grabbed my attention: “February will mark the 100th anniversary of women having the right to vote!”
Curiosity sparked, I turned up the radio: “BBC Radio 4 are holding an online vote for the most influential British women of the past century.Each day in the run up to the anniversary we’ll be shortlisting and celebrating a candidate for the award”.
Last Wednesday’s nominee was Dorothy Hodgkin, the only British woman to ever win a Nobel Prize in the sciences. Dorothy won her award in 1964 for developing a technique that enables the complex structure of proteins to be deciphered – this is known as protein crystallography. Dorothy used this technique to work out the structure of insulin, vitamin B12 and penicillin.
Funnily enough, I had recently been discussing this technique with my colleague Jessica. I told her the news story when I got to work and we decided we’d share with you how, thanks to Dorothy’s brilliant work, protein crystallography is currently helping researchers funded by the MND Association to find out more about MND.Read More »
Swallowing problems are an incredibly common cause of malnutrition and weight loss in MND patients. To add to this, weight loss in MND is associated with shorter survival. This means managing swallowing problems effectively is crucial to ensuring people living with MND can have the best possible quality of life.
Managing swallowing problems using gastrostomy
Swallowing problems in MND are often managed by placing a feeding tube directly into a patient’s stomach – this is known as a gastrostomy. The feeding tube can either be placed into the stomach via the mouth, or directly from outside the body.
An MND Association-funded study that concluded in 2015 provided much needed evidence on the best method and timing for gastrostomy. This study, known as ProGas, was led by Professor Chris McDermott at the Sheffield Institute for Translational Neuroscience (SITraN).Read More »