Milestone in fight against killer of young athletes

The inherited disorder, called right ventricular dysplasia/cardiomyopathy (ARVD/C), can strike without warning leading to sudden death.

It accounts for up to 5 per cent of fatal cardiac arrests in people under 65, and is the leading cause of sudden death among young athletes.

John Marshall, a 16-year-old England schoolboy international, suffered a fatal heart attack the day before he was due to join Everton. His family, who had been unaware of his condition, now works with charity Cardiac Risk in the Young to raise awareness of the importance of screening.

It also claimed the life of Matt Gadsby, a Hinckley Town player who collapsed and died during a match at Harrogate Town, in 2006.

ARVD/C usually presents no symptoms until the early 20s, making life difficult for scientists studying its development but US researchers have now managed to simulate the disorder by creating affected heart cells from patients’ skin.

The “disease-in-a-dish” reveals that the condition is linked to adult metabolism and abnormal activation of a protein called PPAR.

Scientists hope their model will help them develop new treatments.

The research involved taking ordinary skin cells from ARVD/C 
patients and reprogramming them.

Effectively, the cells’ developmental clock was turned back to an embryonic state.

The modified cells, called induced pluripotent stem cells (iPSCs), had the ability to transform into any kind of tissue in the 
body.

The scientists coaxed them into becoming patient-specific heart muscle cells containing the 
faulty genes responsible for ARVD/C.

Further work showed how malfunctioning adult metabolism was at the core of the disease.

In the foetus, heart muscle cells get most of their energy from glucose. But after birth, they switch to using fat for energy production.

Only when the scientists triggered metabolic maturity in their model were they able to induce signs of the disease.

The research is published in the online edition of the journal Nature.