Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith–Lemli–Opitz syndrome fibroblasts

CA Wassif, PA Krakowiak, BS Wright… - Molecular genetics and …, 2005 - Elsevier
Smith–Lemli–Opitz syndrome (RSH/SLOS) is an autosomal recessive, malformation
syndrome caused by mutations in the 3β-hydroxysterol Δ7-reductase gene (DHCR7).
DHCR7 catalyzes the reduction of 7-dehydrocholesterol (7DHC) to cholesterol. We report
the mutation analysis and determination of residual cholesterol synthesis in 47 SLOS
patients, and the effects of treatment of SLOS skin fibroblasts with simvastatin. Using
deuterium labeling we have quantified the amount of synthesized cholesterol and 7DHC in …