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The Horton lab is interested in defining the molecular and metabolic alterations that result in excessive fat accumulation in liver. We have recently reported the identification and characterization of two mammalian enzymes that catalyze reactions in long and very long chain microsomal fatty acid elongation. Lines of knockout mice will determine the physiological consequences of the induced mutation for lipid homeostasis and in the development of obesity.
A second focus of study is the characterization of a novel SREBP-regulated gene, PCSK9, a gene that encodes proprotein convertase subtilisin/kexin type 9a. Mutations in PCSK9 cause a rare autosomal dominant form of hypercholesterolemia. Individuals from families who harbor one mutant allele of PCSK9 have significant elevations in plasma LDL cholesterol. We have recently carried out a series of in vitro and in vivo studies that demonstrated PCSK9 overexpression decreases LDL receptor protein levels, thereby increasing plasma LDL levels. |
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