Affected individuals have low cholesterol levels and elevated levels of cholesterol percursors.
SLOS is a natural model of cholesterol synthetic defects, and understanding this condition at the biochemical and molecular level will advance our knowledge of cholesterol metabolism in general. In addition to clinical studies, we are also pursuing in vitro studies. We are currently involved in identification of mutations in the gene in a number of patients. In addition, sterol synthesis in cultured fibroblasts of SLOS patients is measured. With this in vitro model, possible treatment modalities such as the use of HMG CoA reductase inhibitors can be studied in cell culture prior to their application in patients.