Our lab studies the genetic and molecular
mechanistic bases of pediatric heart disease, including both
defects of anatomy and function. Significant congenital heart
defects occur in about 0.5% of all births and is a leading cause
of childhood death in the United States. Twice as many children
die from heart defects than from all forms of cancer combined.
Heart disease in children generally results from fundamental
defects in cardiac development or function. Pediatric cardiology
patients also suffer cardiac conduction defects and heart failure,
which often result from fundamental defects in cardiac biology.
Thus, understanding mechanisms of pathogenesis may suggest new
strategies to treat heart disease in both children and adults.
Our lab uses an interdisplinary approach to elucidate the pathways
and interactions by which mutations of Nkx2-5 lead to heart
disease. Nkx2-5 is a transcription factor that regulates cardiac
development from fly to man. The Drosophila homolog tinman is
essential to specify the heart tube. Homozygous deletion in mice
causes arrest of cardiac development and lethality at embryonic
day 9.5 when the heart tube is in the process of looping.
Heterozygous mutations in man cause congenital heart defects and
atrioventricular block and is associated in some cases with heart
failure. Ongoing projects in the lab address the mechanisms of
each of these human
conditions in mouse, cell culture and computational models.
Patrick Y. Jay, M.D., Ph.D. Washington University School of Medicine McDonnell Pediatrics Research Building 660 S. Euclid Avenue Box 8208 St. Louis, MO 63110 email address:
SCHOOL OF MEDICINE
