- Research Instructor
- Systems Manager, Lipid Analysis Core
Mechanism of retinal degeneration in a mouse model of human autosomal dominant Stargardt Macular Dystrophy. We recently discovered that the protein that is mutated in this disease (ELOVL4) is an enzyme critical to the synthesis of a unique class of fatty acids (very long chain polyunsaturated fatty acids, VLC-PUFA) found primarily in retinal membranes. We are investigating the mechanism by which mutations in the gene expressing ELOVL4, which catalyzes the rate-limiting step in VLC-PUFA formation, lead to retinal degeneration and blindness. · Development of analytical techniques for the analysis of lipid species in biological tissues and cells.
Lipids consist of a diverse class of hydrophobic and amphiphilic molecules that play important roles in cellular energy storage and production, structure, and signaling. The important role of lipids in visual function and dysfunction has been known since the early 1970s. Because of the wide distribution of lipids in every cell, tissue, organ, and whole body, lipid homeostasis is essential to normal physiology. Thus, it is not surprising that defects in lipid homeostasis cause human diseases including several in the eye. Examples include the key roles played by vitamin A, docosahexaenoic acid (DHA), very long chain polyunsaturated fatty acids (VLC-PUFA), phosphoinositides, neuroprotectins, and sphingolipids, several of which were discovered by members of our research program (Anderson, Rajala, and Mandal). Our objective is to analyze lipid molecules that play important biological roles, especially in visual function. The lipids of interest include fatty acids, glycerolipids, sphingolipids, ceramides, sterols, glycerophosphoinositides, and various other lipid species. We also have the capability of identifying unknown and perhaps undiscovered lipids such as those involved in signaling reactions. We provide expertise in designing experiments to address the needs of researchers by bringing together the multidisciplinary expertise and the advanced instrumentation and resources required in the study of lipids in relation to health and disease.
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