This blog is a fabricated story inspired by the current knowledge of MND.
Today, we wake to news that Mr Motor Neuron (one of the brightest stars in Hollywood) has been killed. A very specialised actor, he was well known for his lightning fast reactions and action-packed roles, often playing characters that had very important messages to deliver.
The alarm was first raised at 2am, when Neuron was found dead in the kitchen of his house by the cleaner, Miss Phagocyte. Dr Riluzole was called and attempted CPR, but nothing could be done to revive him. Early speculation is that he may have been poisoned with a highly toxic protein substance. Neuron’s bodyguards (hired from the prestigious company MicroGlia) have also gone missing, leading many to believe that they too have been murdered.Read More »
We are delighted to announce that Dr Arpan Mehta has been appointed as our latest Lady Edith Wolfson Fellow, jointly funded by the MND Association and Medical Research Council. This clinical research training fellowship will help to launch his career as an aspiring academic neurologist, providing comprehensive training in cellular, molecular and bioinformatics technologies in a world-class environment.Read More »
Last week, The New England Journal of Medicine (NEJM) published a review article by Professors Ammar Al-Chalabi and Robert Brown, in which they looked at the up to date evidence on the incidence of ALS, pathological mechanisms of the disease, as well as genetics and therapeutic strategies.
We would very much like to thank the NEJM who kindly allowed us to share full text of this article on our website – this is now available to view here.
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.
When motor neurones in the spinal cord become damaged this makes them electrically unstable, meaning they spontaneously discharge electrical impulses that cause small groups of muscles to contract. These contractions, known as fasciculations, are a common symptom of MND. Research suggests that they might be a good marker of motor neurone health.
Tracking fasciculations with surface EMG
Led by researchers Prof Chris Shaw and Prof Kerry Mills, Dr James Bashford is using technology called surface EMG to collect data on the site and frequency of fasciculations in different muscles in people with MND. Fasciculations in people with MND are different to benign fasciculations, which can occur in people without the disease and are generally harmless. James and the team hope to show that fasciculations in those with MND have a unique ‘fingerprint’ which can be accurately identified and tracked.
Data collected will be compared to other information currently used to track the progression of MND. James and the team hope surface EMG might provide a more sensitive way of measuring disease progression than previously used methods. This one year feasibility study is being carried out at King’s College London at a cost of £95,000 (our reference: 932-794).Read More »
There is a critical need to find a biomarker for MND to speed up diagnosis, monitor disease progression and improve clinical trials. A biomarker is a biological change that can be detected in a person to signal that they have MND, and that can be measured over time to monitor how the disease is progressing.
Previous research has suggested micro RNAs (miRNAs) present in the blood might be a biomarker for MND. miRNAs are short forms of RNA, the cell’s copy of our genetic material DNA. They are stable in the blood, can be easily measured with a blood test, and evidence suggests that they are linked to MND progression. To put it simply, if the biomarker hunt was a music festival, miRNAs would be a headlining act that a lot of people are excited about!Read More »
During the early stages of MND it is proposed that motor neurones are more susceptible to an imbalance of oxygen within the cells, known as oxidative stress. Prof Dame Kay Davies, at the University of Oxford, has previously shown that increasing the levels of the gene Oxr1 can protect motor neurones from death caused by oxidative stress and delay MND in mice. You can read about this work here.Read More »
Deposits of the protein TDP-43 are found within the motor neurones in the majority of cases of MND, and are considered a pathological hallmark of the disease. While we do not fully understand how these deposits are formed, previous research has shown that activation of a process called the Unfolded Protein Response (UPR) can cause TDP-43 protein to deposit in the motor neurones.Read More »
The MND Register is a major five year project that aims to collect and store information about every person living with MND in England, Wales and Northern Ireland. It is led by world-class MND researchers Prof Ammar Al-Chalabi and Prof Kevin Talbot, at a cost of £400,500 (our grant reference: 926-794).
Why is it important?
MND is believed to affect 5,000 people in the UK at any one time, however the true figure is not known as there is currently no way of recording this information. The register aims to provide us with the true number of people living with MND in the UK.
The information collected will answer questions about how many people have MND in different areas, how the condition progresses, and how the disease can affect people. The register will connect people with MND to researchers, including those conducting clinical trials, and will provide valuable information to guide the future development of care services.
How will information be collected and used?
The register will be advertised nationally to all people with MND and related healthcare professionals. People with MND will be provided with detailed information about the register, and after some time for consideration, they can agree to take part. Their information will be recorded onto a secure database, either by a healthcare professional, or by the person with MND themselves through a register website (this will then be checked by a healthcare professional).Read More »
Mistakes in a gene known as ALS5, or spatacsin, cause a rare form of inherited MND that develops at a much earlier age than most other forms of the disease. Under supervision from Dr Cahir O’Kane, MND Association funded PhD student Alex Patto has been using fruit flies to understand how mistakes in spatacsin cause MND (our grant reference 861-792).
Prior to this research, which is based at the Department of Genetics at the University of Cambridge, nothing was known about how faulty spatacsin leads to motor neurone degeneration. Three and a half year years on, this research has shed light on this important question.
What did they find?
By conducting tests in the fruit flies, Alex has found that the spatacsin protein has a role in cell recycling (also known as autophagy), a process which keeps cells healthy. When the spatacsin protein is faulty it leads to disrupted cell recycling and abnormal levels of another protein called Rab7, which might contribute to MND development.Read More »