How animals are helping to improve our understanding of MND

‘From antibiotics and insulin to blood transfusions and treatments for cancer or HIV, virtually every medical achievement in the past century has depended directly or indirectly on research using animals’ – from the Royal Society’s position statement on the use of animals in research.

We know that talking about using animals in research is an emotive topic. We appreciate that some people will never accept that using animals in research is necessary, and we understand that it is not our place to try and influence anyone’s opinion on the use of animals in research. The purpose of this blog is to explore how using animal models of MND can further our understanding of this devastating disease, and how animals make it possible for potential new treatments for the disease to move forward into clinical trials in people.Read More »

FaTHoM 2: UK-leading MND clinicians on inherited MND

After its successful premiere in 2017, the University of Oxford organised another meeting of people affected by inherited MND, called ‘Families for the Treatment of Hereditary MND (FaTHoM)’. This turned out to be yet another excellent day where MND clinicians-researchers presented on topics such as genetics of MND, genetic testing and gene therapies. Below you can find out more about what was presented on the day and links to the videos of recorded talks.

Understanding familial MND

Introducing the rationale of the meeting, Prof Martin Turner set the scene by explaining the great difficulty in understanding the disease due to its many possible causes. Being such long cells, many things can go wrong in the motor neurones and in the vast amount of their support cells (such as astrocytes or microglia). But one factor can help us understand the disease better – genes.

Around 5-10% of MND is considered familial. That is, around 1 in 15 people have had someone in their family affected by this disease in the past, making them more likely to develop the disease themselves. Specifically, if we consider the ‘multistep hypothesis’ of MND which assumes that six steps have to happen in our lifetime for the disease to develop, a mistake in a specific gene may reduce the number of the necessary steps to four or even two (read more about the impact of genetic on the multistep hypothesis here).Read More »

Microbiome: is the answer in our guts?

Exploring the link between our guts and our general health is becoming increasingly popular. Studies of people with various physical and mental health conditions suggest there may be an important link that has not yet been explored in MND.

Researchers are now looking closely into the association between our gut microbiome and our vulnerability to develop a range of psychological and neurological conditions, ranging from autism,  depression, schizophrenia, to multiple sclerosis, Parkinson’s disease and MND.

Now more than ever, research into finding out more about the impact of our microbiome on our mental and physical wellbeing is being carried out, with more than 80% of all scientific publications on gut microbiome being published after 2013. This surge of interest in the topic is quite optimistic and has the potential to  repair any functions affected by the ill-effects of gut imbalance.Read More »

Professional football and MND – looking at the evidence

Last year professional football players, Len Johnrose and Stephen Darby, announced they’d been diagnosed with motor neurone disease (MND). This follows previous announcements from other prominent footballers in this country and across the world in recent years.

Is it the case that professional football players are more prone to developing MND than the general population? Or is this just the impression created by the high-profile nature of these professionals and the corresponding media coverage these cases bring? What does the science suggest?

Here we look at some of the studies that investigate the incidence (rate of newly diagnosed cases) of MND in professional football players and take a closer look at the suggested causes.Read More »

GLT8D1: new gene identifies novel disease mechanism

MND Association-supported clinical fellow Dr Johnathan Cooper-Knock, and a PhD student Tobias Moll, report mutations in a new MND gene which has uncovered a previously unknown disease mechanism. The new MND causing gene holds instructions for a class of proteins, called glycosyltransferase (GLT8D1), which has not previously been associated with neurodegeneration.

During the experiments, published in the journal Cell Reports, the research team read the genetic code from two related patients with an unknown familial (inherited) form of MND and found a change in the gene that makes an enzyme called GLT8D1. They went on to examine a larger sample of 103 people with inherited MND and found that five of these also had this gene abnormality, indicating that this change causes MND. Because the enzyme and its mechanism have never previously been associated with MND, this study has uncovered a new genetic and biological cause of the disease.Read More »

Disease mechanisms: Highlights from Glasgow

This blog is part of the ‘Highlights from Glasgow’ collection of articles, where you can read about the content of some of the talks and posters presented at the 29th International Symposium on ALS/MND.

Several sessions at the Symposium focused on how impairments in key neuronal structures in MND contribute to the development and progression of the disease, and how these could be targeted with therapeutics.

Prof Spires-Jones (C16) opened session 4A with a discussion of the role of synapses in neurodegeneration. Synapse dysfunction and loss is seen in many neurological diseases, including MND, Alzheimer’s disease and Dementia with Lewy bodies. The commonality of synapse loss across these diseases makes it a key therapeutic target, and in addition, most neurological drugs work at the level of synapses, making them a very ‘druggable’ target. Prof Spires-Jones summarised data from her team and others that showed that in MND, synapse degeneration in the frontal cortex is associated with cognitive decline, and damaging TDP-43 protein is found in synapses. Targeting these pathways could be beneficial to prevent or treat MND.

We also heard an interesting talk from Prof Schiavo in session 5A (C29) on the use of axonal transport as a therapeutic target. Deficits in axonal transport are found in many neurological diseases, including MND.  These deficits appear before/at disease onset and are likely to be important in the development of MND. Schiavo talked us through data that showed that the p38 MAPK signalling cascade, which is important for axonal transport, is increased in the SOD1 mouse model of MND, and that long-term treatment with a p38 MAPK inhibitor partially restores physiological function in MND neurones in vitro and in vivo. Another example showed that inhibition of the insulin-like growth factor-1 receptor (IGF1R) (which is overexpressed in MND patients) restores axonal retrograde transport in a SOD1 mouse in vivo, providing further evidence of the possible beneficial effects of targeting key pathways linked to axonal transport. The take-home message was that axonal impairments are reversible and can be modulated by small molecule inhibitors.


Find out more about the topics discussed in Glasgow on our Periodic table of Symposium at www.mndassociation.org/symplive.

Lifestyle & environment: Highlights from Glasgow

This blog is part of the ‘Highlights from Glasgow’ collection of articles, where you can read about the content of some of the talks and posters presented at the 29th International Symposium on ALS/MND.

In the Epidemiology session (5C), several talks focused on the risk associated with various lifetime events, and the demographics of people who develop MND categorised by onset at various body regions. Susan Peters (C37) and her colleagues studied a group of 1,500 people with MND and 3,000 control participants, and found that people who had suffered head trauma after the age of 55 had an increased risk of developing the disease compared to those without this type trauma. They further found reduced risk in people currently/recently taking antihypertensive and cholesterol-lowering medication, but this risk was significantly increased in people who were taking these medications earlier in life. These findings now need to be explored further to investigate the underlying mechanisms that would explain these differences.Read More »

MND and the mind – who is affected?

Motor Neurone Disease (MND), as the name suggests, is known as a disease of motor neurons, a specific type of neurons that co-ordinate our voluntary movement, leading to loss of the ability to move, speak and breathe. And perhaps because the main focus often falls on the rapidly-progressing physical symptoms and their management, the way MND affects the mind has often be overlooked.

brain networkMost literature on MND states that certain behavioural and cognitive (thinking) problems affect up to 50% people with MND, out of which 15% have a co-occurring diagnosis of frontotemporal dementia (FTD). Adding to this, a recent paper by Dr Christopher Crockford and colleagues, published in the journal Neurology, found that up to 80% of people living with MND will have some form of cognitive or behavioural impairment by the final stage of their disease (or in other words, only 20% will have an intact cognitive and behavioural processing).Read More »

MND research around the world

worldmap annotated and marked

In the last decade, the MND Association has invested millions in research within the UK and across the world. We are a leader in the funding and promotion of cutting-edge MND research and, with over 30 years experience of identifying the most promising projects, we only fund and support scientific and medical research of the highest quality and relevance to MND.

And the great news is, we are not the only ones!

alliance_logo_landscape_rightThe International Alliance of ALS/MND Associations has 54 member institutions, in 40 countries around the world – from Mongolia to Mexico, Malta to Malaysia – who are supporting, funding, collaborating in and carrying out MND research, and/or offering much needed care and support to people with MND and their families.

All the institutions listed by the Alliance are shown on the map above. If you want to take a look at some of these, they are easy to access through the International Alliance website. Some of the websites are not in English but you can use the Google Translate Web tool to translate the entire site into English (or any other language).

So let’s take a whistle-stop tour and explore some of the latest research and support projects that other institutions around the world are involved in. The institutions I mention are shown on the map with a yellow pointer.Read More »

Why do we need the MND Register?

Whilst we believe that there are currently around 5,000 adults in the UK living with MND at any one time, the precise figure is not known as there is no single source of information to confirm it. The MND Register of England, Wales and Northern Ireland is set to find a more accurate figure of the true number of people living with the disease. This research study, funded by the MND Association with the support of The Betty Messenger Charitable Foundation and a family trust that wishes to remain anonymous, is jointly led by Professor Ammar Al-Chalabi at King’s College London and Professor Kevin Talbot at the University of Oxford.

Despite our increasing knowledge of the role that genetics plays in MND, there is strong evidence to suggest that MND is a complex disease that is triggered by a combination of genetic predisposition to the disease and exposure to external environmental influences such as occupational and lifestyle factors.Read More »