Approximately 60 percent of people with 22q11.2 deletion syndrome have congenital heart disease that mostly affects the cardiac outflow tract. Bernice Morrow, Ph.D. and Deyou Zheng, Ph.D., have received a four-year, $2.4 million grant from the National Heart, Lung, and Blood Institute to understand the developmental basis of congenital heart disease associated with 22q11.2 deletion syndrome. The researchers will focus on the gene TBX1, which is present in the region deleted in 22q11.2 deletion syndrome and codes for a transcription factor that plays a major role in heart development. A subset of people who have a TBX1 mutation, but not a deletion, develop heart problems resembling those in patients with 22q11.2 deletion syndrome.

Dr. Morrow and colleagues recently discovered a multilinear progenitor population of stem cells that expresses genes important for forming the cardiac outflow tract, which divides during fetal development into the aorta and the pulmonary trunk, both of which provide blood to the body. Using mouse models in which the Tbx1 gene no longer works, they will now try to understand how this gene functions molecularly to influence the progression of progenitor cells as they develop into the more differentiated cells that form the cardiac outflow tract.

Dr. Morrow is director of translational genetics, holds the Sidney L. and Miriam K. Olson Chair in Cardiology and is professor of genetics, of pediatrics and of obstetrics & gynecology and women’s health at Einstein. Dr. Zheng is professor of genetics, in the Saul R. Korey Department of Neurology and in the Dominick P. Purpura Department of Neuroscience at Einstein. (R01HL153920)