The gene that controls the human heart beat

A correctly beating heart is vital to a baby’s growth during pregnancy, helping guard against heart defects at birth — the most common birth defects. Now, researchers at Murdoch Children’s Research Institute (MCRI) have shed new light on the way heart muscle cells contract.

Using human pluripotent stem cells, the MCRI team showed that a gene called NKX2-5 is responsible for regulating heart rhythm and heart muscle cell development. The study’s lead author, Dr David Elliott, said variants in this gene cause problems in the human heart’s ‘electrical system’, so patients with NKX2-5 alterations often have to have a pacemaker implanted.

Already known to control when other genes are turned on or off, the researchers also found that NKX2-5 regulates heart muscle cell development by directly controlling another gene called HEY2. Alterations in HEY2 cause Brugada syndrome, a disease that disrupts the heart’s normal rhythm.

“Despite over 20 years of work on NKX2-5 in mouse models, the regulatory relationship between these two genes has not been previously reported,” Dr Elliot said. “This highlights the importance of using human cells when investigating human disease.”

Published in the journal Nature Communications, the study improves our understanding of the genetic control of heart muscle development and identifies a genetic pathway that regulates the heart’s electrical conduction system. It may also lead to new approaches for treating heart disease by targeting the genetic causes of heart disease.

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