SURF

Flora Ting

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).

Message to Sponsor

As a work-study student, SURF/Rose Hills has provided me with the invaluable opportunity to continue my research without worrying about any financial burdens. Working with my mentors and peers also provides a unique opportunity to experience the life of a full-time scientist, as well as explore other areas of research and gain a new perspective on the work done in these fields. This program has given me the chance to develop and refine my skills as a researcher, and I am especially grateful that my efforts will contribute to a field of research that I am passionate about.
  • Major: Molecular and Cell Biology
  • Sponsor: Rose Hills Foundation
  • Mentor: Gordon Watson, Children's Hospital Oakland Research Institute