Vital clues for treating a deadly heart condition could be found within the skin. Researchers looking into this have now been given a million pound boost, by the British Heart Foundation (BHF), to advance their findings in studies involving patients with the heart condition.
The team found a link between a skin condition, that causes hardened lesions on the palms and soles, and an inherited heart condition known as Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC). ARVC is one of the inherited conditions that the BHF now estimates around half a million people in the UK could be at risk of due to carrying a faulty gene (1).
Each year around 600 apparently healthy people aged 35 or under are victims of sudden cardiac death with no explanation, leaving families shocked and distraught (2). Often this sudden death is caused by an inherited heart condition, such as ARVC. Up to 64,000 people in the UK could carry a faulty gene for ARVC (3).
If a person carries a faulty gene for ARVC, there is a 50:50 chance they will pass that gene onto each of their children (4). Last month the BHF launched its Fight for Every Heartbeat campaign to highlight the importance of urgent research into inherited heart conditions hidden within so many family trees.
The research team based at Queen Mary University of London (QMUL) have received a £ 1,119,191 grant from the BHF. They will be studying the skin cells of people with ARVC - looking at what the faulty gene is doing in these cells - but also making beating heart muscle cells from these skin cells to study the heart condition. They will do this by first turning the skin cells into induced Pluripotent Stem (iPS) cells, which can be turned into many different cell types.
ARVC is linked with faulty genes that can cause problems in a protein that helps make up and control a part of the cell called the desmosome. Problems in the desmosome can cause heart and skin cells to pull apart and/or not communicate properly with each other.
Despite having faults in the same gene for the desmosome, people can have vastly different symptoms. Some have a heart condition, some a skin problem and some can have both. The team want to better understand why this happens and why faults in the desmosome can become so dangerous.
Professor Kelsell and his QMUL colleague Professor Andy Tinker will be working with clinical colleagues Professor William McKenna and Dr Pier Lambiase at University College London who are screening families with ARVC for known and possible genes that could be causing their condition. Some of these patients will volunteer to have skin biopsies as part of these studies. The BHF's new advert for its 'Fight For Every Heartbeat' campaign features a baby, Zara, whose mum Caroline discovered that she had a faulty gene for ARVC before she became pregnant. She knew that there was a 50:50 chance it could be passed onto her baby.
Upon receiving the funding, Professor David Kelsell, Queen Mary University of London, Barts and the London School of Medicine and Dentistry, said:
"The discovery of desmosomes being important in ARVC actually came, in part, from looking at the skin, so now the plan is to go back to the skin to understand ARVC in more depth. By better understanding the genetic and disease mechanisms, we hope to find new ways to target the heart condition in the form of new treatments.
"With the support of the BHF, we hope that our work in the lab could help to make a real difference for people with this inherited heart condition in the near future."
Professor Peter Weissberg, Medical Director at the BHF, which is funding the study, said: "Research projects looking at inherited heart conditions like ARVC are urgently needed and this is a superb example of how laboratory scientists can team up with clinical researchers to help patients as soon as possible.
"The stem cell technology that allows these scientists to turn skin cells into heart cells was only discovered in 2006. In less than 10 years it is allowing us to study heart conditions in ways that would have never been possible before. The techniques being used here could provide clues as to the treatments of the future.
"We can only fund research like this because people generously donate their time or money every day across the UK. If we're to continue funding pioneering research, we need people to keep supporting us in our fight for every heartbeat."
Caroline Stroud, 35, from Folkestone in Kent, discovered that she had a faulty gene for ARVC before she became pregnant. Her baby Zara had a 50:50 chance of inheriting the faulty gene. Caroline only discovered about her risk of developing ARVC after her father suddenly experienced heart problems and he was then diagnosed with the condition.
"It can be scary not to know what the future holds for me and my baby - I've got a faulty gene that could cause ARVC and Zara may have it too. And there are thousands more of us out there but it's comforting to know there are researchers looking into our condition."
It is hoped the findings will benefit patients being treated at a brand new cardiovascular centre due to open in 2015 at St. Bartholomew's Hospital. The specialist cardiovascular services currently located at St. Bartholomew's Hospital, The London Chest Hospital and The Heart Hospital will be brought together under one roof in a new state-of-the-art centre.
The new cardiovascular centre will serve 3.2 million people across north and east London and further afield. The creation of the new cardiac centre forms part of a wider programme of service transformation to benefit patients with, or at risk of, cardiovascular disease across the area served by the UCLPartners Academic Health Sciences Network.
Find out more about the BHF's life-saving research to fight inherited heart conditions bhf.org.uk/fight.