North Staffordshire researchers have been awarded £20,000 to help cure a heart defect that causes thousands of sudden deaths each year.
The experts hope to understand and control arrhythmogenic right ventricular cardiomyopathy (ARVC) – a condition that affects around 620,000 people in the UK and causes up to five per cent of young adult deaths.
Sufferers often fail to notice any symptoms, which can mean they do not know they have the genetic disease until it is too late.
While ARVC cannot be prevented, group leader Dr Vinoj George believes it could be controlled in the early stages through genetic engineering to stop it becoming lethal.
His pioneering study will receive the funds from local charity the North Staffordshire Medical Institute.
Dr George said: “This disease manifests with different severity. In some patients even a little bit of stress can trigger it, often resulting in sudden cardiac death.
“There are other people who live perfectly well with it and it can be controlled by drugs or devices that can be put in to maintain heart rate.”
He explained that ARVC is caused by a genetic mutation affecting the cell protein that ‘glues’ the heart muscles together. This leads to the death of cardiac cells, stopping the heart from pumping properly and causing an irregular heartbeat.
The same problem gene can manifest with different severities.
Dr George’s team, based at Keele University’s Institute for Science and Technology in Medicine (ISTM), will create the ARVC mutation in human stem cells in the laboratory, before converting them into cardiac muscle cells.
They will then use optogenetic technology – which uses light to change the behaviour of mutated cells – to look for the genetic triggers that make the disease more severe.
He said: “We’re taking stem cells, we’re creating the protein mutation in the cell and then we’re making the cell behave like it would in the heart. Then what we’re doing is trying to use genetics to control how the disease can be reproduced and modified at the cellular level.
“Once we identify the genes that are responsible, then it will help us to find drugs or strategies to control that mechanism.”
Patients are usually diagnosed with ARVC on the basis of their symptoms, but the underlying genetic cause can only be confirmed by a test in a specialist clinic. This is often reserved for severe cases and the relatives of known sufferers, who have a 50 per cent chance of passing the disease on to their children.
Dr George’s study will use genetic data provided by St George’s Hospital in London, which treats a range of ARVC patients with various mutations and severities.
He added: “We hope to translate our work to benefit clinicians at the Royal Stoke Hospital in devising treatment strategies to control ARVC severities, potentially at a younger age.”
The grant was allocated as part of the NSMI’s annual awards, which are funded by a combination of public donations, bequests and the income from conferences and room hire facilities at the charity’s base on Hartshill Road, Stoke.
Once Britain’s first postgraduate centre, the iconic building is now used as a conference facility.
While the annual funding has now all been allocated, researchers will soon be able to apply for the Institute and UHNM’s Firelighter Awards of up to £10,000.
For more information, visit www.nsmedicalinstitute.co.uk, like us on Facebook or follow us on Twitter. Anyone interested in making a bequest is asked to email manager Jacqui Robinson at email@example.com.