8-year study highlights role of a key protein in cardiomyopathy

An international team of investigators that includes a contingent from King's College London has unveiled how a key protein that regulates muscles deteriorates, triggering currently untreatable cases of cardiomyopathy. And their work could help illuminate a new approach to developing drugs for the condition.

Their work centered on alpha-actinin, a key protein that guides the development of muscles, holding together layers of muscle and spacing them properly so they can absorb the steady pounding of a beating heart.

By altering the structure of alpha-actinin, they found, heart muscle was no longer able to withstand contractions. And by focusing on the genetic mutations that alter the protein, the investigators believe they've found a pathway that can identify the real culprits behind the disease, offering a new approach to screening patients and ultimately figuring out how to prevent the condition.

The work--which took 8 years to complete--isn't limited to heart disease. As the BBC notes, the same conclusions could assist in developing new drugs for ailments such as muscular dystrophy.

Mathias Gautel

"We have worked out the structure of a major protein responsible for muscle layering," said Mathias Gautel from King's College. "This gave us new insights into how muscle is built and how its movement is controlled. We hope that this will help geneticists make accurate diagnoses of muscle diseases and may ultimately lead to designing new therapies."

"There is currently no cure or treatment for cardiomyopathy and these findings demonstrate the value of funding laboratory research to answer fundamental questions that could ultimately lead to treatments for patients," says Professor Jeremy Pearson of the British Heart Foundation.

- here's the release

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