The Mitochondrial Citrate Carrier In Congenital Heart Defects Associated with 22q11.2 Deletion Syndrome

Lay Summary: Congenital heart defects are among the most common types of birth defects, affecting how the heart develops and functions. We recently discovered that loss of the mitochondrial citrate carrier (SLC25A1) gene, can cause heart defects in mice. SLC25A1 helps heart cells produce energy, and loss of SLC25A1 impairs metabolism and prevents the heart from developing properly. In humans, the SLC25A1 gene is found on chromosome 22 (the 22q11.2 region), and deletions within this region causes a disease known as 22q11.2 deletion syndrome, a leading genetic cause of congenital heart defects. In this study, we will be investigating if loss of SLC25A1 specifically causes heart defects in 22q11.2 deletion syndrome, and also determining if using a metabolic therapy targeting SLC25A1 can improve or prevent heart defects in 22q11.2 deletion syndrome. Collectively, this research could lead to a new therapy to support the development of healthy hearts.