RNA is the lesser-known ‘cousin’ of DNA – it contains copies of genetic instructions sent out from the nucleus – the ‘control hub’ of every cell. This RNA is carried out of the nucleus by lots of different proteins, including the RNA-binding proteins TDP-43 and FUS, which act as ‘couriers’ dropping off their RNA at the right part of the cell and then returning to the nucleus for the next package.
These binding proteins both play an important role in motor neurone health. In motor neurones affected by MND, the TDP-43 and FUS seem unable to make their way back to the nucleus so they form clumps in other parts of the neurone. How and why this happens is not really understood and several presentations on the first day of the Symposium provided insight into what might be going wrong. Dr Brian Dickie, Director of Research Development at the MND Association, summarises these presentations in his blog Libraries, Doormen and Harry Potter. You can also hear Brian talk about RNA proteins on the Symposium website.Read More »
Mention the word Epidemiology and instantly my mind conjures up the Centre for Disease Control (CDC) in America being swarmed by zombies or men in bright orange astronaut-type suits in The Crazies. While it’s true that it includes studying highly infectious diseases and how they spread (zombies and end of world scenarios aside!), it can be applied to any disease.
Having spent much of my time in the last year working on the data that was collected from our recent epidemiology study, I was keen to shout about the fact that the data is now ready for researchers to use. The analysis of this data will add great value to samples that we already have in our DNA Bank.
The results from a study looking at the possible links between exposure to environmental toxins (found in pesticides) and motor neurone disease (MND) was published yesterday (9 May) in the journal JAMA Neurology.
A group of researchers from the University of Michigan, led by Dr Feng-Chiao Su and Dr Eva Feldman, have found that exposure to pesticides is associated with an increased risk of developing MND.
What did the study involve?
156 people with amyotrophic lateral sclerosis (ALS, a type of MND) and 129 healthy ‘control’ participants from Michigan, USA completed questionnaires on their occupation history, gave blood samples, or did both.
The questionnaire asked about their occupations over four windows of time; at any point during their life, in the last 10 years, in the last 10-30 years, and over 30 years ago. From their answers, the researchers worked out the likelihood of each participant’s exposure to pesticides.
The levels of 122 persistent environmental pollutants (including organochlorine pesticides or OCPs) were tested for in blood samples taken from participants.
Persistent environmental pollutants are those with a long half-life, meaning that they break down slowly. This meant that they could be tested for in the blood, even if exposure happened several years ago. However, the blood sample cannot tell us the source of the pollutants, such as if it was through work, at home or even from eating fruit and vegetables that had been sprayed with pesticides.Read More »
Adult onset condition, those with genetic mutations associated with the disease don’t get it until they’re adults, starts in one place and then it spreads, once it occurs the progression is usually relentless…. what condition am I describing?
Professor Neil Pearce’s point in his talk at the opening session of the International Symposium on ALS/MND was that he was describing both motor neurone disease (MND) and also cancer. Although the conditions are very different, as an epidemiologist, spotting patterns and trends to help identify the cause of diseases, it gave him food for thought.
Working with Prof Ammar Al-Chalabi, he decided to apply a method used to help give a framework to understanding the causes of cancer to MND. “The originality of this work is not from the method itself, it comes from applying it to MND” he explained. Beginning by reminding us of work that he reported last November, he went on to describe further work in this area.Read More »
Head injury has been a hot topic in the media in relation to MND. I also receive a number of enquiries from people living with MND asking about the causes of MND, and whether past head injury may influence this? This very topic was discussed in the epidemiology session on the second day of the 25th International Symposium on ALS/MND.
We know that the majority of cases of MND are caused by a combination of subtle genetics, lifestyle and environmental factors. We have identified some of the genetic factors involved; however the environmental and lifestyle factors remain somewhat elusive. Read More »
Published in Lancet Neurology on 7 October 2014, Association-funded researcher, Prof Ammar Al-Chalabi based at King’s College London, and an international team of researchers have used a new approach to study the causes of MND.
Under the leadership of Prof Neil Pearce, based at the London School of Hygiene and Tropical Medicine, researchers have used a mathematical approach previously used by cancer researchers to explain why MND is an adult-onset disease, and why it varies (even within families). Read More »
The results of new research investigating a link between physical activity and MND was presented by the University of Sheffield research group in the late-breaking news session on the last day of the 24th International Symposium on ALS/MND. Under the leadership of Prof Pam Shaw, along with Dr Chris McDermott, MND Association-funded researcher Dr Ceryl Harwood presented her findings.
The background of MND and physical activity
Physical activity and the link between MND has long been debated amongst researchers.
There are a number of different types of physical activity; from leisure time (for example an evening walk) to more vigorous physical activity and athleticism (marathon runners and professional sportsmen).
Previous research back in 2008 found that Italians playing professional football had an increased risk of developing MND. However, this research is yet to be confirmed in other countries. Director of Research, Dr Brian Dickie said: “The Italian researchers also looked at professional cyclists and basketball players, but no association was found, so basically the jury has been out on whether athleticism is a risk factor for MND.”
When you hear the word ‘cluster’ the first thing that comes to mind is probably a group of stars – not MND. During a plenary talk by Dr Ettore Beghi on Saturday 7 December the question was: ‘Is there anything we can learn from clusters in MND?’
What do we mean by clusters?
Dr Beghi began his talk by defining a cluster as “a health related event with temporal or geographical activity.” Meaning: a number of people are diagnosed with a disease in either a specific time period or area. He also highlighted that if rare diseases are found in clusters then this may require environmental factors to be investigated.
We already know that MND is thought to be caused by a combination of subtle genetics, environmental and lifestyle factors. At the MND Association we regularly receive enquiries about apparent ‘clusters of MND’ and I was looking forward to hearing Dr Beghi’s talk on the subject.
People at increased risk of MND might be the human equivalent of high performance cars – built for speed and agility but becoming unreliable once they reach a high mileage.
There is much anecdotal evidence amongst MND clinicians and those affected by the disease that people who develop MND tend to have been relatively physically fit before their diagnosis, often having been involved in various athletic pursuits throughout their life. This prompted MND Association-funded researcher Dr Martin Turner to ask the intriguing question: Is an athletic physique an outward sign of a subtle predisposition to MND? But how could he make a sensible measurement of ‘athletic physique’ in order to answer such a question? Or as he put it in his presentation on Thursday morning, do people with MND have motor system run to death, or is it a motor system born to run?
A pragmatic way of looking at this was to look at the history of coronary heart disease and whether this is linked to a likelihood of developing MND later in life. Dr Turner has recently published this study in the Journal of Neurology, Neurosurgery and Psychiatry). Through very careful examination of hospital medical records, he and his colleagues compared numbers of MND cases in over a hundred thousand people with a history of coronary heart disease to an even larger group with no known heart problems.
The study did reveal a slightly increased occurrence of MND in the group with healthy hearts, providing indirect evidence that MND is more likely to occur in people with greater levels of ‘fitness’. Dr Turner’s results were in fact corroborated by the findings of another more general study of lifestyle and environmental factors presented in the same session. Dr Marc Huisman’s meticulously executed and much admired questionnaire-based study of the Dutch population also suggested that people with MND were less likely to have relatives with heart disease, indicating a more genetically robust cardiovascular system, amongst many other findings.
Dr Turner’s findings are intriguing but there is still plenty more work to do and many questions are left unanswered. There are other studies that support the possibility of an increased MND risk in people with a healthy cardiovascular system and lean build but of course these two characteristics are also a result of undertaking higher levels of exercise – the question of whether exercise itself contributes to MND still won’t go away. However, Dr Turner’s work supports the concept that if you’re born with a natural leaning towards athletic prowess, you may excel at sport (or in evolutionary terms, hunting down your dinner) but your nervous system wiring may also be more vulnerable to MND as you age – a factor that’s only become problematic with the dramatic increases in life expectancy that have come about in the last couple of hundred years.
As Dr Turner put it at one our spring conferences this year, people with MND may well come from amongst the Ferraris of the human race. With clearer identification of risk factors, prevention of MND becomes a more realistic possibility. It may be that in future the Ferraris can undertake a specialised servicing schedule to ensure they have a greater chance of breaking the 100,000 mile barrier with their electrics in good working order!