27-Hydroxylation of 7-and 8-dehydrocholesterol in Smith–Lemli–Opitz syndrome: a novel metabolic pathway
CA Wassif, J Yu, J Cui, FD Porter, NB Javitt - Steroids, 2003 - Elsevier
Smith–Lemli–Opitz syndrome (SLOS) is attributable to mutations in the gene coding for 7-
dehydrocholesterol reductase. Low to absent enzyme activity accounts for the accumulation
of both 7-dehydrocholesterol and 8-dehydrocholesterol in plasma and other tissues. Since
oxysterols can participate in the regulation of cholesterol homeostasis, we examined the
possibility that they are formed from these dehydrocholesterol intermediates. In patients with
SLOS, we found serum levels of 27-hydroxy-7-dehydrocholesterol ranging from 0.1 to 0.25 …
dehydrocholesterol reductase. Low to absent enzyme activity accounts for the accumulation
of both 7-dehydrocholesterol and 8-dehydrocholesterol in plasma and other tissues. Since
oxysterols can participate in the regulation of cholesterol homeostasis, we examined the
possibility that they are formed from these dehydrocholesterol intermediates. In patients with
SLOS, we found serum levels of 27-hydroxy-7-dehydrocholesterol ranging from 0.1 to 0.25 …