A protein known as the ryanodine receptor is responsible for providing a steady supply of calcium needed to keep the human heart pumping efficiently. And a researcher at the University of Cardiff says he's identified a genetic defect that disrupts the heart's normal rhythm and eventually leads to lethal heart failure.
Fixing that defect, he adds, makes for a natural target for drug developers devoted to the cardiovascular arena.
"For the first time we have been able to obtain a precise molecular picture of this tiny defect," says Professor Tony Lai from the Sir Geraint Evans Wales Heart Research Institute at Cardiff University School of Medicine. "This new insight into the RyR protein's intricate structure and function will assist in the development of novel therapeutic drugs that corrects this molecular defect. We now need to begin screening people for this genetic flaw, so that steps can be taken to offset their chances of developing heart disease."
Lai worked with colleagues at the Slovak Academy of Science on this research, the culmination of 20 years of lab work.
"The RyR protein is so fundamental to heart function. Just like in a car, if the thread of an engine valve is altered it will continue to keep going, but it may be only a matter of time before it blows and gives up--and that's the same for people who carry this defect. In people, it would take some kind of physical exertion or emotional trauma to trigger a cardiac crisis, which could lead to stroke, heart attack or sudden death."
- here's the release