Muscle breakthrough could lead to better screening for cardiomyopathies

26 November 2014        

Fluorescence microscopy image of healthy heart muscle cells

Scientists that we helped fund have worked out the structure and role of an essential protein that holds our muscles together – alpha-actinin.

When alpha-actinin is faulty, muscle structure deteriorates and essential muscle layers can't form in the heart.

Alpha-actinin is involved in many processes in the body and is closely related to diseases of the heart muscle, or cardiomyopathies, which can lead to shortness of breath, irregular heartbeat and even death, often in seemingly healthy people.

This research, published today in Cell, shows how damaged alpha-actinin, caused by a faulty gene, could potentially be identified by screening the family members of those affected by certain cardiomyopathies. The researchers hope that this discovery will also improve screening and lead to treatments for some types of muscular dystrophy.

How does this work?

In order to move, our muscles need to be striated – made up of layers. These can be seen as stripes under a microscope. Thousands and thousands of these layers are required to contract when our heart muscle beats and, if these layers are not formed correctly, then serious heart problems can occur. Healthy heart muscle should be layered but these new findings show that when the gene that controls alpha-actinin is not working properly, heart muscle does not form regular layers when grown in the lab.

The international research project took fourteen years and was co-led by BHF Professor and Chair of Molecular Cardiology, Mathias Gautel, at King' s College London.

These findings demonstrate the value of funding laboratory research to answer fundamental questions.

Professor Jeremy Pearson, Associate Medical Director

Professor Jeremy Pearson, our Associate Medical Director said: 

“This detailed research explains how an essential protein is responsible for the muscle structure of the heart and how, when faulty, it can lead to diseases of the heart muscle known as cardiomyopathies.

“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.”

Like all the research we fund this work relied on donations from the public. With your help we fund cutting-edge heart research like that of Professor Barbara Casadei, who combines her role as a heart doctor with pioneering work to improve our understanding of atrial fibrillation.

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