WASHINGTON – Scientists are teasing out gene mutations that can make heart muscle turn flabby, part of a push to better screen people at risk of heart failure.
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A British-led research team tested 5,000 people for mutations in a protein that makes muscle tissue elastic. Many people harbor those mutations, but only some develop dilated cardiomyopathy, a condition that can lead to heart failure. It can run in families, but often there's no obvious cause.
Wednesday's study found where the mutations are located on that muscle gene is key to whether they're harmful or not. The finding could help in screening high-risk families, but also has broader implications for how to improve gene-based testing to identify only the riskiest mutations.