Genetic Mechanism Linked to Congenital Heart Disease Identified

How did the heart become a heart? Studying the development of the fetus’s heart enables the development of treatment of diseases originating later in life. Epigenetics, genetic mutations originating during the embryonic stage cause long-term negative consequences, can cause congenital heart diseases in adulthood. 

Incorrect activation of the genes—Ezh2 and Six1—creates problems. In a completely functioning heart, Ezh2 turns the appropriate genes on and off at exactly the right time in heart development. Drs. Brunea and Delgado-Olguin removed Ezh2 from mice at various developmental stages. When removed while in uterus, enlarged and weakened hearts were not seen until after birth. This provides an example of epigenetics causing cardiomyopathy.

Furthermore, Six1 usually stays on for a limited amount of time because of the Ezh2 regulation. As a result, when Six1  is on for too long of time, heart problems arise.  Enlargement and thickening of hearts occurred in mice because of  activity of genes usually only present in skeletal muscle.

Ezh2 also regulates Eya4. Eya4 causes dilated cardiomyopathy if not controlled appropriately. Knowing how Ezh2 manages Six1, Eya4, and other genes could  create a blueprint of the heart. Then doctors would need to learn to manage Ezh2 for more complete power of the heart.

Knowing how the heart became a heart enables the possibility of preventing the development of heart diseases with specialized therapies. Treating a chronic and potentially fatal disorder increases the ability to save lives. About 1.3 million U.S. children could more easily fight the daily battle with congenital heart disease with the appropriate data utilized.  The need for heart transplants could diminish; or, at least, ease the struggle to find hearts.

Source :

http://www.sciencedaily.com/releases/2012/01/120122152530.htm

ScienceDaily – January 23, 2012

Leanne Kristek, VTPP 435-501