Picture of face and eye

Do the eyes have it? Could Resistant Nerves See Our Way to a Treatment?

The Science Show on ABC Radio National in Australia, features an interview with Professor Justin Yerbury on Saturday 17th August.

The article containing the interview titled ‘Resistant nerves could lead to treatment for neurodegenerative disease‘ is a fascinating insight into Prof Yerbury’s work on the  delicate balance of proteins in solution within our nerves and how this is interrupted in MND.

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Focusing on mitochondria – a potential target for early MND treatment?

Dr Arpan Mehta, one of our Lady Edith Wolfson Clinical Fellows, and his team at the Euan MacDonald Centre at the University of Edinburgh have recently carried out a systematic review and meta-analysis of the pre-clinical literature (studies using animal models) to assess the therapeutic potential of targeting mitochondrial dysfunction in MND, examining if these interventions significantly affect survival in animal models of the disease, and determining the most effective time to begin treatment.

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Could MND be treated by HIV drugs?

Recently published results from the open-label Lighthouse trial investigating safety of the drug Triumeq in people with MND revealed the treatment was safe and ready to progress to a larger Phase 3 clinical trial.

The trial was held in Australia and recruited 40 people with MND who all received the active drug; this was because the aim of the trial was to see whether Triumeq, which is already licensed to treat HIV, has a potential as a treatment for MND.

Why HIV drugs?

One of the possible triggers of MND has been suggested to be a group of ‘fossil’ viruses that, over many millions of years of evolution, have left traces of their DNA within our genome. When activated, these ‘retroviruses’ have the ability to merge into our cells, by copying their DNA into our genome, which leads to incorporation of the two DNAs into one. When the affected cell then creates new proteins, partial copies of the virus are produced with it.

Retroviruses have been linked to MND because of findings of a particular retrovirus, called human endogenous retrovirus (HERV-K), in the brains and motor neurons of people with the disease. Although some studies failed to confirm this finding, researchers deemed this to be a promising area of therapeutic focus.Read More »

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 »