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Human stem cell research shows new genetic pathway controls the heart beat

19 June 2018
A correctly beating heart is vital to a baby’s growth during pregnancy, helping guard against heart defects at birth.
New research into human heart development has shed light on the way heart muscle cells contract. A correctly beating heart is vital to a baby’s growth during pregnancy, helping guard against heart defects at birth, which are the most common birth defects. 

Using human pluripotent stem cells Melbourne’s Murdoch Children’s Research Institute has shown that a gene called NKX2-5 is responsible for regulating heart rhythm and heart muscle cell development. 

The research paper, made possible through the scientific interaction of different Stem Cells Australia’s research groups, was published recently in Nature Communications.

The study’s lead author, Dr David Elliott, said variants in the gene cause problems in the human heart’s ‘electrical system’, so patients with NKX2-5 alterations often have to have a pacemaker implanted. 

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

NKX2-5 is 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.  

This ground-breaking work improves our understanding of the genetic control of heart muscle development and identifies a genetic pathway that regulates the heart’s electrical conduction system.

This study may lead to new approaches for treating heart disease by targeting the genetic causes of heart disease.

This study is an example of the collaborative work conducted by Stem Cells Australia members with participants from The University of Melbourne, The Florey Institute of Neuroscience and Mental Health and The Victor Chang Cardiac Research Institute.

For more information:
Read the journal article.