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Breakthrough gives hope for treatment of ALS

Johns Hopkins researchers have identified a potential window for treating the neurodegenerative disease



Researchers believe they may have found a window of opportunity to help treat Amyotrophic lateral sclerosis (ALS), in what could be a huge breakthrough in developing treatments and giving hope to people living with the condition. 

A team at Johns Hopkins Medicine has found a potential opportunity to target astrocyte abnormalities — a subtype of cells in the central nervous system that provide a structure to metabolically support neurons and fine-tune neuron network signalling.

The research team believes that astrocytes are actively involved in the death of motor neurons, which are cells in the brain and spinal cord that allow people to move, speak, swallow and breathe by sending commands from the brain to the muscles that carry out these functions.

“We think this is particularly important because the astrocyte dysfunction is active after symptom onset in patients with ALS,” says Dr Nicholas Maragakis, professor of neurology at the Johns Hopkins University School of Medicine and medical director of the Johns Hopkins ALS clinical trials unit. 

“This finding may enable us to target abnormalities in astrocytes for ALS treatment.”

ALS is a neurodegenerative disorder which weakens muscles over time, impacting physical function and ultimately leading to death. There is no single cause for the disease and no known cure.

In their study, researchers analysed brain and spinal cord tissues from patients with ALS and observed that a particular astrocyte protein, connexin 43, acts as an open pore that sends toxic factors to the motor neurons from the astrocytes. 

The pore was particularly active in patients with ALS who have a family history of the disease and those who contracted the disease in a sporadic fashion.

The research team was also able to develop stem cell lines from patients with ALS and develop them into astrocytes. They found that these astrocytes induced motor neuron death through hemichannels; proteins that provide pathways for the movement of molecules among cells.

“This is a new pathway that we have shown to be present in ALS tissues, animal models and patient-derived stem cells,” Dr Maragakis says. 

“It’s also exciting that this particular hemichannel protein seems to be elevated in spinal fluid from patients with ALS and could serve as an important biomarker. 

“This is a true precision medicine approach toward the disease.”

Dr Maragakis says pharmaceuticals are being developed that could block this hemichannel. 

During the study, his team showed that tonabersat, a drug originally developed for treatment of migraine and epilepsy, could block astrocyte-induced motor neuron death in human ALS stem cell lines and animal models.

This study, Dr Maragakis says, offers increasing evidence that astrocytes play a role in the spread of ALS. 

Next, the team will try to establish why this hemichannel is so active in ALS astrocytes, giving them a better understanding of how the disease progresses.


New research aims to find treatments for MND

The MND Collaborative Partnership brings together patients, charities, government bodies and academia



A new UK-wide effort to drive progress in research to move closer to ending motor neuron disease (MND) has been backed by £4.25m in funding. 

The MND Collaborative Partnership brings together people living with MND, charities LifeArc, MND Association, MND Scotland and My Name’5 Doddie Foundation, government bodies Medical Research Council (MRC) and National Institute for Health and Care Research (NIHR), and researchers from six UK universities. 

The partnership team – which brings together researchers from King’s College London, University of Sheffield, University of Liverpool, University College London, University of Oxford and University of Edinburgh – will work together to find solutions to address problems currently hindering MND research, with the ambition of discovering meaningful treatments within years, not decades.

MND (also known as amyotrophic lateral sclerosis, or ALS) affects the brain and spinal cord, causing people to progressively lose nearly all voluntary movement. 

Six people are diagnosed with MND every day in the UK and the condition affects around 330,000 across the world. Around half of those diagnosed die within two years.

The only licensed drug for MND in the UK has a modest effect on extending life – but no treatments are available that can substantially modify disease or cure the condition.

Through the MND Collaborative Partnership, all parties will combine to share their expertise to develop better tests to measure MND progression, improve MND registers, support people to take part in clinical trials more easily and develop more robust lab tests. 

There will also be a study involving 1,000 people with MND from across the UK to better understand disease progression and how people respond to new and existing treatments.

“We believe that by combining and coordinating our expertise, we will be more effective than if we work on projects in isolation,” says Professor Christopher McDermott, co-director of the research programme and professor of translational neurology at the Sheffield Institute for Translational Neuroscience (SITraN).

“This partnership will provide the infrastructure to attract additional MND funding and enable further MND centres and researchers to join forces in the national effort to find effective treatments for MND. 

“The partnership is the first step towards our goal to establish a national MND institute.”

Sajid Javid, Secretary of State for Health and Social Care, said: “Motor neuron disease has a devastating impact on those who are diagnosed, their families and loved ones – but there is hope. 

“This new partnership is a highly ambitious approach which will drive progress in MND research and, backed by £1 million of government funding, will bring the MND research community together to work on speeding up the development of new treatments. 

“The collaboration across government, charities, researchers, industry and people with MND and their families will take us one step closer to one day achieving a world free from MND.”

Funding for the MND Collaborative Partnership research grant totals £4.25 million and contributions are: LifeArc (£1million), MND Association (£1million), My Name’5 Doddie Foundation (£1million), MND Scotland (£250,000), Medical Research Council (MRC) (£500,000) and National Institute for Health and Care Research (NIHR) (£500,000).

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‘Exciting’ genetic breakthrough in MNDs research

Research could help pave the way to new diagnostic approaches and treatments for this group of conditions



A new genetic discovery adds weight to a theory that motor neurone degenerative diseases (MNDs) are caused by abnormal lipid processing pathways inside brain cells. 

This theory will help pave the way to new diagnostic approaches and treatments for this group of conditions, say researchers, and will provide answers for certain families who have previously had no diagnosis.

Motor neurone degenerative diseases are a large family of neurological disorders. Currently, there are no treatments available to prevent onset or progression of the condition. 

MNDs are caused by changes in one of numerous different genes. Despite the number of genes known to cause MNDs, many patients still remain without a much-needed genetic diagnosis.

A University of Exeter team led by Professor Andrew Crosby and Dr Emma Baple has a long history of research in motor neurone degenerative diseases. 

The team developed a hypothesis to explain a common cause of MNDs stemming from their discovery of 15 genes responsible for MNDs. 

The genes they identified are all involved in processing lipids – in particular cholesterol – inside brain cells. The new hypothesis describes the specific lipid pathways that the team believe are important in the development of MNDs.

Now, the team has identified a further new gene – named TMEM63C – which causes a degenerative disease that affects the upper motor neurone cells in the nervous system.

The protein encoded by TMEM63C is located in the region of the cell where the lipid processing pathways they identified operate. This further bolsters the hypothesis that MNDs are caused by abnormal processing of lipids including cholesterol.

Professor Andrew Crosby, at the University of Exeter, said: “We’re extremely excited by this new gene finding, as it is consistent with our hypothesis that the correct maintenance of specific lipid processing pathways is crucial for the way brain cells function, and that abnormalities in these pathways are a common linking theme in motor neurone degenerative diseases. 

“It also enables new diagnoses and answers to be readily provided for families affected by some forms of MND.”

MNDs affect the nerve cells that control voluntary muscle activity such as walking, speaking and swallowing. There are many different forms of MNDs which have different clinical features and severity. 

As the condition progresses, the motor neurone cells become damaged and may eventually die. This leads to the muscles, which rely on those nerve messages, gradually weakening and wasting away.

If confirmed, the theory could lead to scientists to use patient samples to predict the course and severity of the condition in an individual, and to monitor the effect of potential new drugs developed to treat these disorders.

In the latest research, the team used cutting-edge genetic sequencing techniques to investigate the genome of three families with individuals affected by hereditary spastic paraplegia – a large group of MNDs in which the motor neurons in the upper part of the spinal cord miscommunicate with muscle fibres, leading to symptoms including muscle stiffness, weakness and wasting. 

These investigations showed that changes in the TMEM63C gene were the cause of the disease. 

In collaboration with the group led by Dr Julien Prudent at the Medical Research Council Mitochondrial Biology Unit at the University of Cambridge, the team also undertook studies to learn more about the functional relevance of the TMEM63C protein inside the cell.

Dr Prudent said: “From a mitochondrial cell biologist point of view, identification of TMEM63C as a new motor neurone degenerative disease gene and its importance to different organelle functions reinforce the idea that the capacity of different cellular compartments to communicate together, by exchanging lipids for example, is critical to ensure cellular homeostasis required to prevent disease.”

Dr Emma Baple, of the University of Exeter, said: “Understanding precisely how lipid processing is altered in motor neurone degenerative diseases is essential to be able to develop more effective diagnostic tools and treatments for a large group of diseases that have a huge impact on people’s lives. Finding this gene is another important step towards these important goals.”

The Halpin Trust, a charity who support projects which deliver a powerful and lasting impact in healthcare, nature conservation and the environment, part-funded this research. 

Claire Halpin, the charity’s co-founder with her husband Les, said “The Halpin Trust are extremely proud of the work ongoing in Exeter, and the important findings of this highly collaborative international study. 

“We’re delighted that the Trust has contributed to this work, which forms part of Les’s legacy. He would also have been pleased, I know.”

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Rob Burrow receives MBE

Rugby league legend honoured for services to rugby and MND awareness



Rugby league legend and prominent MND campaigner Rob Burrow has collected his MBE, awarded in recognition of his outstanding achievement in both fields. 

Rob was recognised in the Queen’s New Year Honours list in 2021 for ‘services to rugby and motor neurone disease (MND) awareness during COVID-19’.

Rob, a patron of the MNS Association, received his honour from HRH The Princess Royal at Windsor Castle, accompanied by his wife Lindsey.

Since his diagnosis of MND in 2019, Rob has dedicated himself to raising awareness of the condition, inspiring millions of pounds in fundraising from thousands of people across the country, with his friend and former Leeds Rhinos team-mate Kevin Sinfield undertaking a number of gruelling challenges to raise vital funds for MND research. 

Speaking when he received his MBE, Rob said: “I’m shocked to be accepting the MBE award, it’s not something that was on the list of things that I wanted to achieve but I am absolutely honoured to receive this award.

“Any excuse to see my wife get dressed up in the dresses she deserves to be, I hope she enjoys the occasion like me.

“I’ve always got a kick out of giving close ones that experience like no other. It gives my Lindsey escapism from a normal day-to-day management of looking after me.

“I’m so proud to receive this because of my rugby and the awareness for MND, this most importantly means that MND continues to be talked about and keeping it in the public (eye).

“I’m blown away by the response to me getting the disease and I hope they know – it’s all for you.”

Sally Light, chief executive of the MND Association, said: “We are thrilled that Rob has received this well-deserved MBE. 

“Since his diagnosis Rob has inspired thousands of people, both in and out of the ruby league community, to raise money and invaluable awareness of motor neurone disease. 

“Rob has selflessly chosen to share his journey with MND with the world which has galvanised people into doing whatever they can to help find a cure for this brutal disease. 

“We feel incredibly proud to have Rob as a Patron of the MND Association and I’d like to say a huge congratulations to Rob and his family on this special day.”

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