Sean Sun L&S Sciences
AAV9 for Treatment of Inborn Error of Cholesterol Synthesis
Cholesterol is an essential molecule to survival. Some of its functions include being a precursor to steroid hormones, a component of cell membranes and cell signalling. Without cholesterol, we would lose control of blood pressure and our body’s cells would fail to acquire nutrients necessary for survival. My project investigates Smith-Lemli-Opitz Syndrome (SLOS), which is an inborn error of cholesterol synthesis. Because only one non-functional gene causes SLOS, we can apply gene therapy to integrate a functional gene into the genome of a SLOS cell. To date, we have improved cholesterol levels, except in the central nervous system. The blood-brain barrier causes this shortcoming. This natural barrier prevents cholesterol from entering the brain’s extracellular fluid. However, the vector AAV9 has been characterized to cross the blood-brain barrier. My project tests how efficiently AAV9 can transduce cells in the central nervous system compared to other methods.