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Cellular pathway of genetic heart disease similar to neurodegenerative disease

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Research on a genetic heart disease has uncovered a new and unexpected mechanism for heart failure. This landmark discovery found a correlation between the clumping of RNA-binding proteins ― long linked to neurodegenerative disease ― and the aggregates of protein found in the heart tissue of patients with RBM20 dilated cardiomyopathy.

Dilated cardiomyopathy is a disease of the heart muscle that makes it harder for the heart to pump blood to the rest of the body. A decade ago, Timothy Olson, M.D., a pediatric cardiologist at Mayo Clinic, traced the disease to a genetic mutation in a gene called RBM20. Unlike most heart disease, this form of cardiomyopathy can affect patients as early as young adulthood, and they are at particularly high risk for sudden cardiac death.

For the past decade, heart failure in RBM20 cardiomyopathy was attributed to abnormalities in the splicing of genes for proteins that help the heart contract. However, the new discovery finds another way that mutant RBM20 damages heart muscle cells: through accumulation of pathological ribonucleoprotein granules, affecting everything in the cells and leading to a new form of disease.

“It’s important to realize that there are kids and young adults that have heart failure because of this exact mutation,” says Tim Nelson, director of Mayo Clinic’s Todd, lead author of the study. “We have taken these findings back into the lab and developed cell cultures to test new therapeutics. The future of this research is focused on moving discoveries out of the lab and into clinical trials to make new therapies available to our patients. This research is a very important catalytic step to do that.”

Through gene editing technology, Dr. Nelson’s team produced the first large animal model displaying all the typical clinical signs and symptoms of human heart failure: a pig born with the human gene for RBM20 dilated cardiomyopathy. This model allowed them to study development of the heart disease in the animal in a matter of months. It takes 20 years or more for the disease to progress in humans.

A simple staining test performed on the pig heart tissue samples discovered clumps full of RNA-binding protein. Archived tissue samples from Dr. Olson’s RBM20 dilated cardiomyopathy human patient tissue confirmed this discovery. They were likewise flooded with the same protein granules.

This supports a new concept that beyond splicing caused by the gene mutation, RBM20 is an RNA-binding protein granule disease similar to diseases like Lou Gehrig’s disease, or amyotrophic lateral sclerosis, and Alzheimer’s disease.

“To my knowledge, this overload of protein granules in cells has only previously been seen in the brain or spinal cord, and some very rare skeletal muscle diseases. Now we have found it in the heart, a large organ that is much more accessible to study than spinal neurons or brain tissue. Most importantly, we can study and develop therapies to prevent the buildup of these toxic granules at the beginning of life instead of waiting 50 years or more for degenerative disease to appear clinically. This is a huge advantage that should accelerate drug discovery in ribonucleoprotein granule degenerative diseases of the heart and nervous system,” says Jay Schneider, a Mayo Clinic cardiologist and first author of the study.

MND

£1m dedicated to MND research through 7 in 7 Challenge

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A £1million fund has been created to lead new research into potential treatments for Motor Neurone Disease (MND) through the efforts of an iconic challenge by Kevin Sinfeld. 

Kevin, director of rugby at Leeds Rhinos, raised over £2million through his 7 in 7 Challenge, inspired by his former team-mate and close friend Rob Burrow. 

Rhinos legend Rob was diagnosed with MND in December 2019, and Kevin completed seven marathons in as many days to help boost badly-needed research into the condition. 

Now, with £500,000 of the money raised through the 7 in 7 Challenge ring fenced for research, that sum has been matched by medical research charity LifeArc. 

The move has created a £1million joint fund established by the MND Association and LifeArc, which will support research projects focused on developing new therapies or repurposing drugs already approved for use for other conditions.

“This is fantastic news and an amazing contribution from LifeArc,” says Kevin. 

“When we set out to complete the 7 in 7 Challenge we hoped to raise awareness and funds to support the MND community but it is so wonderful to see the inspiration it has given people and organisations, like LifeArc, so they too can support the need for more research.

“Our hope, like that of everyone affected by this brutal disease including Rob, is that this money will make a real difference and help find the breakthrough we all desperately want.”

Researchers are now able to apply for a share of the funding, with the criteria that they will be expected to conclude their project within three years and be target driving with set milestones and a credible delivery plan – including a clear route to reach MND patients.

Dr Brian Dickie, director of research development at the MND Association says: “We are so grateful to LifeArc for this generous contribution and are looking forward to working with them to identify projects which have a real chance of making a difference to our community in the coming years.”

Melanie Lee, LifeArc’s chief executive, emphasised that the focus of the new funding is on boosting research around potential treatment options based on the latest understanding of the disease.

“The ambition around stimulating the search for new treatments fits with LifeArc’s approach over the last 25 years to translate early science into health care treatments or diagnostics that can transform patients’ lives,” she says. 

“Our partnership with the MND Association is the latest in a series of strategic partnerships that maximise LifeArc’s expertise in translating strong discoveries from the lab into benefitting patients with conditions with few or no effective treatment options.”

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What causes a stroke?

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Ischemic and hemorrhagic are the two main types of stroke

Over 100,000 people in the UK suffer a stroke each year, with there currently being around 1.2 million survivors living in the country.

Many people note that despite how common strokes are they remain unaware of what the actual causes of a stroke are.

Depending on which of the two types develops, causes and outcomes can differ.

What both have in common is they restrict blood flow to the brain. This leads to a reduction in the brain’s oxygen levels, which can cause tissue damage.

Here, NR Times breaks down why a stroke may occur and what risk factors there are behind each different type.

What are the different types of stroke?

There are two main types of strokes: ischaemic and hemorrhagic.

Ischemic strokes make up nearly 90 percent of all cases and they materialise when an artery which provides blood and oxygen to the brain becomes blocked. 

A hemorrhagic stroke is much less common, but happens when an artery leading to the brain bursts and starts to leak blood around or in the brain.

Causes of an ischaemic stroke

The brain is only able to function properly when its arteries supply it with oxygen-rich blood, meaning any blockages can cause lasting damage.

With a lack of blood flow, the brain is unable to make enough energy to work. If this consists for more than a few minutes, brain cells will begin to die.

This is exactly what happens in an ischaemic stroke, but there are a range of reasons as to why these blockages develop.

One of the main causes is when the arteries around the head narrow, which makes it harder for the blood to pass through.

This can also lead to something called atherosclerosis, which is where substances in the blood (such as fat or cholesterol) stick to the sides of the arteries.

Blood can build up on these deposits, causing a further increase in pressure and a reduction to the brain’s oxygen supply.

There are a number of reasons for these blockages, with the most common ones being around a person’s lifestyle.

For example, smoking can increase the risk of a stroke by up to 50 percent.

This is because nicotine not only narrows the arteries, but it also makes the heart beat faster, causing an increase in blood pressure.

Excessive alcohol intake, obesity and high cholesterol levels are also all listed as major risk factors when it comes to ischaemic strokes.

Problems with the arteries around the heart can also lead to an ischaemic stroke.

Irregular heartbeats, heart attacks and other irregularities around this area can again limit the blood’s oxygen levels.

Causes of a hemorrhagic stroke

Hemorrhagic strokes are most common in people ages 45 to 70, but they affect a lot more younger people than an ischaemic stroke.

These are caused after the arteries around the brain burst and cause bleeding.

Depending on where the artery is can affect the outcome of the hemorrhagic stroke.

If the bleeding occurs within the brain, blood shooting out at high pressure can kill some cells.

Bleeding on the surface increases the pressure in the protective layer between the brain and the skull, potentially causing more cell loss.

This bleeding is normally caused by chronically high blood pressure. In many cases, the increased pressure can cause the arteries to expand and weaken, meaning a split in them is more likely to take place.

A rarer cause of hemorrhagic stroke is where the blood vessels around the brain are connected abnormally, causing further stress on the brain. These are congenital (present at birth) but the reason for their occurrence is currently unknown.

Again, the best way to reduce the risk of an hemorrhagic stroke is to make healthy lifestyle choices.

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NHS pilots video service for epilepsy diagnoses

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A new clinical video service which supports epilepsy diagnoses and management in the era of coronavirus and beyond has been launched in the UK.

vCreate Neuro allows registered patients and carers to share smartphone-recorded videos of potential seizures or unknown movements with their clinical team via a secure, NHS-trusted system.

The data and footage act as a visual aid to assist clinical teams with rapid precision diagnostics, creating a digitised clinical pathway that minimises the need for face-to-face clinic appointments and invasive tests.

The system is currently being piloted across Scotland and, following its initial success, across England including Great Ormond Street Hospital, Evelina London and Sheffield Children’s Hospital.

The system is available to families who are concerned that they, their child or loved one may be experiencing seizures or unexplained episodes including epilepsy.

Since May 2020, more than 2,000 families have shared over 5,000 videos with their clinical teams across the platform.

Dean MacLeod was referred to the service when her seven-year-old daughter, Olivia, began having unknown movements in May 2020.

Dean uploaded videos of Olivia during these episodes as Olivia’s seizures grew more frequent.

The videos were reviewed by Paediatric Neurology professionals at the Royal Hospital for Children, Glasgow, and, supported with telephone appointments, Olivia was diagnosed with a form of epilepsy and quickly started on treatment.

Speaking about her experience, Dean said: “I’ve found vCreate to be invaluable in Olivia’s journey since she started having seizures last summer.

“We live in a remote location on the Isle of Lewis, Scotland, and we have a very limited paediatric service on the Island. The service has made it easy to access the specialist clinical knowledge needed by sending recordings of various seizure events to the Paediatric Neurology team at Glasgow.

“Since the diagnosis, I have kept in regular contact with the clinical team through the platform, sending videos and typically receiving advice from a Consultant within 24 hours which is fantastic. Between the vCreate service and telephone discussions, our family have not needed to have face-to-face consultations which has been hugely beneficial during the pandemic.”

Professor. Sameer Zuberi, consultant paediatric neurologist at the Royal Hospital for Children, Glasgow, said: “vCreate Neuro has transformed how we use carer-recorded video in our service. We are diagnosing epilepsy more rapidly, preventing misdiagnosis and saving unnecessary investigations. Families feel in more control and better connected to the service.

During the Covid-19 pandemic, many people experiencing seizures and seizure-like episodes, including children, have been unable to see a clinician.

Create Neuro aims to help by empowering patients to use asynchronous video technology for self-management, reducing the need for physical appointments. 

Founder Ben Moore said: “We’re passionate about family-forward care, and worked closely with clinical teams, patients and carers to develop the vCreate Neuro service.

“The system aims to improve patient care, reduce the number of clinic investigations – and resulting costs to the NHS – and digitise the patient pathway. We want families to be in control of their healthcare journey and have a direct link to their clinical team despite the pandemic restrictions.”

The vCreate platform has been independently assessed and approved by Information Governance teams in over 100 UK NHS Trusts.

 Within the platform, a clinical database is available as a learning resource for clinicians to study seizure types, events, and other symptoms.

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