Congenital heart disease 'linked with genetic mechanism'

23 January 2012

Scientists at the Gladstone Institutes have found a genetic mechanism linked directly to congenital heart disease.

In a new study published online in the journal Nature Genetics, researchers showed there is a vital genetic activity that enables the fetal heart muscle to develop into a fully functional, healthy heart.

This discovery opens the door to finding the cause of congenital heart disease that can often be detected at birth.

Senior investigator Benoit Bruneau said that two genes - Ezh2 and Six1 - play an important role in embryonic development of the heart.

"An understanding of the epigenetic regulation of heart development could someday bring us closer to improving the lives of these individuals," he added.

Mr Bruneau also explained that Ezh2 acts as a "master regulator" and shuts off genes that are not needed and that some genes must remain off to ensure the proper development of the organ.

Congenital heart disease is a problem with the heart's structure and function due to abnormal heart development while still a foetus.

Posted by Edward Bartel

Bruneau, Benoit, et al., "Epigenetic repression of cardiac progenitor gene expression by Ezh2 is required for postnatal cardiac homeostasis", Nature Genetics, January 22nd 2012

Zipes DP, et al., "Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine", 8th ed. St. Louis, Mo; WB Saunders; 2007.


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