Gene Discovery In Congenital Heart Disease Explained In Mouse
Model Scientists now have clues to how a gene mutation
discovered in families affected with congenital heart disease
leads to underdevelopment of the walls that separate the heart
into four chambers. A Nationwide Children’s Hospital study
appearing in PLoS Genetics suggests that abnormal development of
heart cells during embryogenesis may be to blame. When babies
are born with a hole in their heart (either between the upper or
lower chambers), they have a septal defect, the most common form
of congenital heart disease. Although it’s not clear what causes
all septal defects, genetic studies primarily utilizing large
families have led to the discovery of several causative genes.
Vidu Garg, MD, the study’s lead author, previously reported that
a single nucleotide change in the GATA4 gene in humans causes
atrial and ventricular septal defects along with pulmonary valve
stenosis. In mice, the GATA4 gene has been shown to be necessary
for normal heart de