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Your Environment. Your Health.

Genetics and Muscle Structure Play Key Role in Heart Health

Ewan Birney
European Molecular Biology Laboratory
R01ES029917

NIEHS grantees discovered how the shape of the muscles in the heart affect heart performance and heart failure. The study focused on a network of muscle fibers, called trabeculae, that form complex geometric patterns on the inner surface of the heart. Trabeculae are important for heart development, but until now, their function in adults has been unknown.

The research team primarily used data from the UK Biobank study, which includes individuals from the United Kingdom aged 40 to 69 years at enrollment. They used artificial intelligence to analyze the complexity of trabeculae structure in more than 18,000 MRI scans of the heart. Using genome-wide association analysis, they identified 16 DNA regions linking trabeculae complexity and heart function. Further analysis revealed that DNA regions linked with lower trabeculae complexity were associated with increased susceptibility to heart disease and heart failure.

Using computer simulations to model how trabeculae complexity affects heart function, the researchers found that as complexity increased, so did measures of heart performance. Study participants with higher trabeculae complexity had more efficient blood flow from the heart, confirming simulation results and suggesting that trabeculae increase the heart’s ability to contract and pump blood to the body.

Taken together, the authors say findings support a previously unknown role for trabeculae in the adult heart, identify DNA regions that regulate trabeculae complexity, and reveal a causal relationship between trabeculae complexity and heart disease.

Citation: Meyer HV, Dawes TJW, Serrani M, Bai W, Tokarczuk P, Cai J, de Marvao A, Henry A, Lumbers RT, Gierten J, Thumberger T, Wittbrodt J, Ware JS, Rueckert D, Matthews PM, Prasad SK, Costantino ML, Cook SA, Birney E, O'Regan DP. 2020. Genetic and functional insights into the fractal structure of the heart. Nature 584(7822):589–594.


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