Genes go more than skin deep: ARVC and skin disease

You wouldn’t think that skin disease and heart disease were connected. But that’s exactly what a group of scientists we’re funding have discovered.

They're looking into links between the heart condition, arrhythmogenic right ventricular cardiomyopathy and a type of skin disease called palmoplantar keratoderma.

Inherited heart conditions and skin diseases

Researchers have found an unlikely link between an inherited heart condition called ARVC (arrhythmogenic right ventricular cardiomyopathy), that causes abnormal heart rhythms, and PPK (palmoplantar keratoderma) - a skin disease that can cause people to have thick and often painful calluses on their palms and soles.

ARVC can be extremely dangerous since the heart could stop beating at any time, so it is vital to find out more about its causes to develop new therapies.

The link

BHF-funded Professor David Kelsell and his team at Barts and the London School of Medicine and Dentistry have found that the link between the two conditions are faults in proteins that 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 skin cells can begin to pull apart and not communicate properly.

Now the team are embarking on new research to find out why desmosomes are so important and why faults to them can be so dangerous. One of the big mysteries is why people can have such different symptoms despite having inherited genetic defects (mutations) in the same desmosomal gene. Some people have a heart condition, some have only a skin problem, and some can have both.

Examining genetic errors 

To investigate, Professor Kelsell and his team are taking skin cells from affected patients. They will use these cells to examine how genetic errors are affecting the desmosomes in the skin. Then using clever technology they will turn them into heart muscle cells. They can use these newly developed heart muscle cells to look more closely at the genetic errors of the desmosome.

“Our original approach was to find the responsible genes and now it’s to understand how those genes affect the patients.  The discovery of desmosomes being important in ARVC actually came from looking at the skin, so now the plan is to go back to the skin to understand ARVC in more depth,” says Professor Kelsell.

Preventing sudden death

Each year, around 600 young and otherwise healthy people die from a sudden cardiac arrest, often due to an inherited heart condition such as ARVC. The hope is that through this research, Professor Kelsell can find out more about the condition to help treat the people who suffer from it.

Zara, the unborn baby who features in our TV advert, may inherit the gene for ARVC since her mum, Caroline, has it. Professor Kelsell is just one of many BHF-funded researchers fighting her corner to give babies with inherited heart conditions the best possible chance.

Donations power discoveries

Without you we can’t fund Professor Kelsell to carry out this vital research. Donate now to join our fight against inherited heart conditions.