[HTML][HTML] 7-Dehydrocholesterol down-regulates cholesterol biosynthesis in cultured Smith-Lemli-Opitz syndrome skin fibroblasts
M Honda, GS Tint, A Honda, LB Nguyen, TS Chen… - Journal of lipid …, 1998 - ASBMB
Abstract The Smith-Lemli-Opitz syndrome (SLOS) is a common birth defect–mental
retardation syndrome caused by a defect in the enzyme that reduces 7-dehydrocholesterol
to cholesterol. Because of this block, patients' plasma cholesterol levels are generally low
while 7-dehydrocholesterol concentrations are markedly elevated. In addition, plasma total
sterols are abnormally low and correlate negatively with the percent of 7-dehydrocholesterol
(r=–0.65, P< 0.0001) suggesting that 7-dehydrocholesterol might inhibit the activity of HMG …
retardation syndrome caused by a defect in the enzyme that reduces 7-dehydrocholesterol
to cholesterol. Because of this block, patients' plasma cholesterol levels are generally low
while 7-dehydrocholesterol concentrations are markedly elevated. In addition, plasma total
sterols are abnormally low and correlate negatively with the percent of 7-dehydrocholesterol
(r=–0.65, P< 0.0001) suggesting that 7-dehydrocholesterol might inhibit the activity of HMG …