Pioneering treatments could be developed for people with motor neurone disease (MND) after a new study shed light on how the damage to nerve cells can be repaired by improving the energy levels in mitochondria.
Researchers 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.
The laboratory study also found that the movement of the mitochondria, which travel up and down the axons, is impaired.
This was caused, the study found, 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 researchers used stem cells taken from people with the C9orf72 gene mutation, which causes both MND and frontotemporal dementia. They used these stem cells to generate motor neuron cells in the laboratory to use in their experiments.
The study also examined human post-mortem spinal cord tissue from people with MND who had donated their tissue through the Medical Research Council Edinburgh Brain and Tissue Bank. The results supported the findings from the stem cells.
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 neurons, which send messages from the brain and spinal cord to the body’s muscles, stop working properly.
More than 1,500 people are diagnosed with MND in the UK each year, but no cure has yet been found.
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 to look for existing drugs that boost mitochondrial function and may be able to be repurposed to treat MND.
Dr Arpan Mehta, Lady Edith Wolfson Fellow and PhD student at the University of Edinburgh, said: “The importance of the axon in motor nerve cells cannot be understated.
“Our data provides hope that by restoring the cell’s energy source we can protect the axons and their connection to muscle from degeneration. Work is already underway to identify existing licensed drugs that can boost the mitochondria and repair the motor neurons. This will then pave the way to test them in clinical trials.”
The study was funded by the Medical Research Council, Motor Neurone Disease Association, Euan MacDonald Centre for MND Research, My Name’5 Doddie Foundation, UK Dementia Research Institute and Anne Rowling Regenerative Neurology Clinic.
High rollers lead MND tech development
Rolls-Royce through its data technology arm, R2 Data Labs, has partnered with the Motor Neurone Disease Association and some of the world’s leading technology companies, including Accenture, Computacenter, Dell Technologies, Intel and Microsoft, to pool technology and expertise to improve the lives of those living with extreme disabilities.
For the first time, those living with MND will be able to have a conversation through a computer using their own voice, words, colloquialisms and accent, without pausing to type answers or being restricted to a prescribed set of words.
The new technology, called Quips, uses voice-banking and AI to learn a person’s unique language style and use it in conversation.
Communication is one of the most difficult aspects of living with motor neurone disease, which affects around 400,000 of the world’s population and kills more than 100,000 people every year.
Nick Goldup, director of care improvement for the MND Association, said: “MND affects the nerves in the brain and spinal cord which tell muscles what to do. As the disease progresses people lose the ability to move, eat, speak and eventually to breathe.
“The technology available to help people communicate has changed little in the recent past – most people will be familiar with Professor Stephen Hawking’s computerised voice which he programmed using his eyes. This technology will allow people living with MND to communicate closer to ‘real time’ than they can with existing technology.”
Quips is in its early stages, but Rolls-Royce is aiming for it to be implemented into some of the leading augmented and alternative communication packages that already exist, such as those used by the late Professor Stephen Hawking.
Currently, users type what they want to say, and the words or phrases are read out, often in a computerised voice. Quips listens to the conversation, suggesting words and phrases that the user is likely to want to say, based on its understanding of their previous conversations.
The user can quickly select sentences and they are read out in their own voice instantly, with their own accent and local colloquialisms, without gaps for typing.
It even includes slang and can adapt to different situations and people, such as work, home, or even the pub.
Goldup said: “Having your voice stripped away is one of the most brutal aspects of MND. Technology that allows people to retain those things that make them unique – their voice, speech patterns, intonations and word choices – is a huge leap forward in enabling someone to retain their dignity and their sense of self.
“This is really exciting technology – and of course its potential use expands much further than just people with MND.”
Stuart Moss, an IT Innovation strategist at Rolls-Royce, lost his father to MND on Christmas Day 2014.
He started the Next Generation Think Tank earlier this year, alongside the Motor Neurone Disease Association.
Stuart said: “Those with MND are often robbed of their ability to communicate with their loved ones, which can make the festive season particularly lonely and difficult. This technology will give people their voice back and is the first step in what I hope will be many innovations to come from the Next Generation Think Tank.”
MND research portal launched
A new online resource providing “accessible” motor neurone disease information has been launched.
The UK Motor Neurone Disease Clinical Studies Group has launched an updated version of its online portal.
It enables users to find out about all the MND clinical research studies taking place across the UK..
The MND CSG’s aim is to “bring together expertise and enthusiasm to develop and improve both the quality of MND research in the UK, and the number of research studies available for people living with MND to participate in nationally”.
The Group currently includes 36 members with leading MND neurologists, palliative care specialists, patient and carer representatives and other healthcare professionals with an interest in MND clinical research.
MND charity delivers benefits warning to Boris
Representatives of the MND Association have handed a 55,000-name petition to the government demanding changes to the benefit rules for people with a terminal illness.
The document, delivered to 10 Downing Street, urges the government to give people with a terminal illness easier and quicker access to the benefits they are entitled to.
Currently, unless a medical professional signs a form saying the person has six months or less to live they are forced through a laborious process of form-filling, interviews and assessments.
David Setters, who is living with MND and consultant neurologist Dr Nik Sharma were among those who delivered the petition; as was Downton Abbey actor Jim Carter.
The MND Association believes everyone diagnosed with a terminal illness – whatever their life expectancy – is entitled to access the fast track process, which can cut the wait for benefits by weeks and sometimes months.
David Setters says: “We are not asking for money, we are simply asking for fast track access to the benefits people with terminal illnesses need and are entitled to so that affected families don’t have to waste time fighting the system.”
Last month work and pensions secretary Amber Rudd announced a review into benefits for the terminally ill.
While this was encouraging, the MND Association wants assurances that thw review to happen quickly.
Actor Jim Carter says: “Every day 10 people die while waiting for the benefits they need. That can’t be right – and is why I’ve signed the petition along with tens of thousands of other people across the UK who are urging the Government to end the cruel benefit system for dying people.”
The petition, which included 55,435 signatories, will be passed on to the new Prime Minister Boris Johnson.
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