Flora Ting Rose Hills
Determining Biochemical Benefits of Gene Therapy on the Peripheral Nervous System in Cholesterol Deficient Mice
Determined Biochemical Benefits of Gene Therapy on the Peripheral Nervous System Smith-Lemli-Opitz Syndrome (SLOS) is a hereditary disorder characterized by physical dysmorphia, mental retardation, and delayed growth. The principal cause of the disorder is a defect in the gene that codes for the enzyme 7-dehydrocholesterol reductase (DHCR7), resulting in cholesterol deficiency as well as the toxic accumulation of its precursor, 7-dehydrocholesterol (7DHC). The gene for this missing enzyme will be delivered via a viral vector to treat mouse models genetically engineered to mimic SLOS in humans. Since cholesterol is critical to the formation of myelin, the substance that insulates neurons to facilitate signal transduction, the treatment should allow patients to normalize brain cholesterol metabolism and correct the neurological deficits. I will work to further our understanding of the effects of gene therapy on the nervous system by measuring the cholesterol and 7DHC levels in sciatic nerve tissue from normal, untreated SLOS, and treated SLOS mice using gas chromatography/mass spectrometry (GC/MS).