Lee Ying L&S Sciences
Noninvasive biomarkers for inherited cholesterol deficiency
Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disease that causes mental retardation and physical abnormalities. Biochemically, a defect in the enzyme that catalyzes the terminal step of cholesterol synthesis causes cholesterol deficiency and a toxic accumulation of its precursor, 7-dehdyrocholesterol. Gene therapy to supply the missing enzyme has been shown to partially normalize cholesterol metabolism, but more biomarkers need to be established in order to fully explore its usefulness. For my SURF project, I will investigate whether photosensitivity and abnormal bile acid composition, which are symptoms of SLOS in humans, are also symptomatic in the mouse models of SLOS. These characteristics are potential biomarkers that could be used by all researchers developing treatments for SLOS.