Scientists discover link between skin diseases and Sudden Cardiac Death Syndrome

August 14, 2014, Queen Mary, University of London

Scientists from Queen Mary University of London (QMUL) who specialise in genetics of the skin are investigating an unlikely link between skin disease and heart disease which will hopefully shed new light on why someone is predisposed to sudden cardiac death syndrome.

The researchers found a link between a skin condition which causes thick and often painful calluses on the palms of hands and soles of feet, called palmoplantar keratoderma (PPK), and an inherited heart condition which causes , known as Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC).

Each year around 600 apparently healthy people aged 35 or under are victims of sudden with no explanation. 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. If a person carries a for ARVC, there is a 50:50 chance they will pass that gene onto their children.

The two conditions are connected by faults in the proteins which compose and regulate the 'desmosome', a cell structure that essentially acts as a glue to hold cells together. A fault in the desmosome means both heart and can begin to pull apart and not communicate properly.

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. Scientists want to better understand why this happens and why faults in the desmosome can become so dangerous. Further research in this area is to be carried out by QMUL following a grant award of over £1m from the British Heart Foundation.

Professor David Kelsell, who led the research at Queen Mary University of London, comments: "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 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."

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.

Patients with ARVC who are treated at the Barts Heart Centre, a new cardiovascular centre due to open in 2015 at St. Bartholomew's Hospital, will be involved in a research programme focusing on a biopsy rather than a heart biopsy.

Explore further: Discovery could improve screening for sudden cardiac death

Related Stories

Discovery could improve screening for sudden cardiac death

December 12, 2012
Unfortunately, newspaper articles about young athletes dying suddenly on the field are not unheard of. Such reports fuel discussions about compulsory screening, for example of young footballers, for heart failure. Research ...

Scientists solve sudden cardiac death mystery

August 1, 2014
(Medical Xpress)—Scientists have discovered the cause of sudden cardiac death in young children, for the first time making it possible to pinpoint a therapeutic target for future efforts in developing a cure.

Researchers develop world's first human heart cell model

October 25, 2012
Researchers at the National Heart Centre Singapore (NHCS) have successfully created a human heart cell model of arrhythmogenic right ventricular cardiomyopathy (ARVC), an inherited heart muscle disorder which puts one at ...

Team discovers patient-specific cure for dangerous heart rhythm disorder

September 17, 2013
The National Heart Centre Singapore (NHCS) research team has successfully and completely reversed the effects of the hERG (human ether-a-go-go-related gene) mutation in long QT syndrome 2 (LQTS 2) in patient-specific heart ...

Scientists identify genetic cause of 'spongy' skin condition

July 3, 2013
Scientists have identified the genetic cause of a rare skin condition that causes the hands and feet to turn white and spongy when exposed to water.

Recommended for you

Flu may be spread just by breathing, new study shows; coughing and sneezing not required

January 18, 2018
It is easier to spread the influenza virus (flu) than previously thought, according to a new University of Maryland-led study released today. People commonly believe that they can catch the flu by exposure to droplets from ...

Zika virus damages placenta, which may explain malformed babies

January 18, 2018
Though the Zika virus is widely known for a recent outbreak that caused children to be born with microencephaly, or having a small head, and other malformations, scientists have struggled to explain how the virus affects ...

Study reveals how MRSA infection compromises lymphatic function

January 17, 2018
Infections of the skin or other soft tissues with the hard-to-treat MRSA (methicillin-resistant Staphylococcus aureus) bacteria appear to permanently compromise the lymphatic system, which is crucial to immune system function. ...

New study validates clotting risk factors in chronic kidney disease

January 17, 2018
In late 2017, researchers from Boston University School of Medicine (BUSM) discovered and published (Science Translational Medicine, (9) 417, Nov 2017) a potential treatment target to prevent chronic kidney disease (CKD) ...

Fresh approach to tuberculosis vaccine offers better protection

January 17, 2018
A unique platform that resulted in a promising HIV vaccine has also led to a new, highly effective vaccine against tuberculosis that is moving toward testing in humans.

Newly-discovered TB blood signal provides early warning for at-risk patients

January 17, 2018
Tuberculosis can be detected in people with HIV infection via a unique blood signal before symptoms appear, according to a new study by researchers from the Crick, Imperial College London and the University of Cape Town.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.