Steiner Lab
Disorders of Cholesterol Synthesis
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The Steiner Lab studies rare genetic disorders in which the body cannot properly synthesize or processes cholesterol. These disorders are caused by defects in the enzymes involved in the biochemical pathways that either synthesize cholesterol or that convert cholesterol into bile acids. The most common human disorder of cholesterol synthesis is Smith-Lemli-Opitz Syndrome (SLOS). SLOS is due to a mutation in the 7-dehydrocholesterol Δ 7 reductase gene (DHCR7) encoding the final enzyme in the cholesterol synthesis pathway. This disorder is associated with mental retardation and birth defects. SLOS characterized by low cholesterol levels and elevated levels of cholesterol precursors, in particular 7-dehydrocholesterol (7DHC). The Steiner Lab focuses on characterization of the clinical and biochemical effects of DHCR7 mutation. Subsequently, potential treatments are developes and tested. Department of Molecular & Medical Genetics
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