Mechanism of a mutation in actin that causes genetic heart failure

What is it about?

While we know the genes that are frequently mutated in heart failure, it is much harder to figure out whether specific genetic variants found in patients cause the disease, and if so, how they do it. Here, we studied a genetic variant found in a family with heart failure. The variant was found in the gene for skeletal muscle actin, but surprisingly, patients with this mutation developed heart failure. We examined this variant using computational and experimental techniques that span from molecules to human heart cells. We demonstrated that this variant in a skeletal muscle protein affects key aspects of cardiac contraction, and we determined the mechanisms of these changes. This study has important implications for understanding new variants identified in patients and for the development of new treatments for genetic forms of heart failure.

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Photo by jesse orrico on Unsplash

Photo by jesse orrico on Unsplash

Why is it important?

This study helps to establish how a patient-specific mutation in a skeletal muscle protein can cause heart failure. This study has important implications for (1) understanding new genetic variants identified in patients with heart failure and (2) the development of new treatments for genetic forms of heart failure.