New Year – New Research Updates!

As we kick off 2021, news arrives to us from across the pond of research developments. Recently, the University of Edinburgh issued a press release saying that a cohort of their scientists had unveiled interesting lab results that in the future could lead to potential treatments.

The study looked at how improving the function of mitochondria – the power supply of nerve cells – could be a possible treatment for motor neurone disease.

Scientists have discovered that, in human stem cell models of MND, the axon, the long part of the motor neuron cell that connects to the muscle, is shorter than in healthy cells. Also the movement of the mitochondria, which travel up and down the axons, is impaired.

The researchers showed that this was caused by a defective energy supply from the mitochondria and that by boosting the mitochondria, the axon reverted back to normal.  The study was led by Dr Arpan Mehta alongside Dr Bhuvaneish Selvaraj and Professor Siddharthan Chandran from the Euan MacDonald Centre for MND Research at the University of Edinburgh.

The research team created a model of MND in a dish using stem cells donated by people with the most common inherited form of MND (the C9orf72 mutation).  Using this model within their study, the research team, led by Dr Mehta, showed three things.

Firstly that the motor nerve cables (axons) are damaged; secondly that the energy source, or batteries (mitochondria), within the motor nerve cables are also damaged; and thirdly that if the energy is boosted in the faulty batteries, the nerve cable damage can be repaired.

Dr Arpan Mehta said: “This third finding is a new discovery and it opens up potentially new possibilities for treatments. This is an exciting discovery but the very first step in a journey.”

EDINBURGH, UK – 8th June 2017: Euan MacDonald visits the Scottish Centre for Regenerative Medicine at the University of Edinburgh to see first hand the latest research into the treatment of Motor Neuron Disease. (Photograph: MAVERICK PHOTO AGENCY)

MND, also known as amyotrophic lateral sclerosis or ALS, is a progressive condition that causes muscles to waste away. It occurs when nerve cells called motor neurones, which send messages from the brain and spinal cord to the body’s muscles, stop working properly.

About 150 people are diagnosed with MND in the Ireland each year. Currently there are over 400 people living with MND in Ireland.

Although the research focused on the people with the commonest genetic cause of ALS, researchers are hopeful that the results will also apply to other forms of the disease.

The results of the study are now being used in Scotland to look for existing drugs that boost mitochondrial function and may be able to be repurposed to treat MND.

For any enquiries about the research or the MND-SMART clinical trial, please contact emc_admin@ed.ac.uk

Prof Orla Hardiman from the National MND Clinical and Research Centre, Beaumont Hospital and Trinity College Dublin cautioned:

“The experiments are interesting from a scientific perspective, as they have suggested that the nerve cells from some patients with MND behave differently from normal, and that the ability of these nerve cells to make energy for efficient cellular activity is impaired.   This work builds on existing scientific knowledge in MND, as there are many other studies that suggested that cellular energy generation can be affected in some forms of MND.

The Edinburgh group have suggested that new drugs might be developed that could target this deficit.  This is a reasonable conclusion, although it must also be remembered that this was the rationale for a clinical trial in 2013 of a drug called Dexpramipexole, which unfortunately was not successful”.

However, progress is positive and this is not the only research being conducted at the moment. Ireland, along with other countries in Europe, have committed to a number of exciting new clinical trials, starting in mid-2021.

These include trials performed in collaboration with pharmaceutical companies, and trials of drugs that have been selected by our European Clinical Trials Consortium (TRICALS www.tricals.org )

The drugs that have been selected work on many different pathways in MND. The sheer number of new drugs ready for clinical trial allow us to be confident that we will make real breakthroughs to treat MND in the near future.

We will share more news and updates from Prof Orla Hardiman and her team in our next Connect Magazine.