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Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol

Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol,10.1194/jlr.M600295-JLR200

Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol   (Citations: 2)
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Smith-Lemli-Opitz syndrome (SLOS) is an inher- ited autosomal recessive cholesterol deficiency disorder. Our studies haveshownthat inSLOSchildren,urinary meva- lonate excretion is normal and reflects hepatic HMG-CoA reductase activity but not ultimate sterol synthesis. Hence, we hypothesized that in SLOS there may be increased di- version of mevalonate to nonsterol isoprenoid synthesis. To test our hypothesis, we measured urinary dolichol and ubiquinone, two nonsterol isoprenoids, in 16 children with SLOS and 15 controls, all fed a low-cholesterol diet. The urinary excretion of both dolichol (P , 0.002) and ubi- quinone (P , 0.02) in SLOS children was 7-fold higher than in control children, whereas mevalonate excretion was com- parable. In a subset of 12 SLOS children, a high-cholesterol diet decreased urinary mevalonate excretion by 61% (P , 0.001), dolichol by 70% (P , 0.001), and ubiquinone by 67% (P , 0.03). Our hypothesis that in SLOS children, normal urinary mevalonate excretion results from increased diver- sion of mevalonate into the production of nonsterol iso- prenoids is supported. Dietary cholesterol supplementation reduced urinary mevalonate and nonsterol isoprenoid excretion but did not change the relative ratios of their excretion. Therefore, in SLOS, a secondary peripheral regulation of isoprenoid synthesis may be stimulated.— Pappu, A. S., W. E. Connor, L. S. Merkens, J. M. Jordan, J. A. Penfield, D. R. Illingworth, and R. D. Steiner . Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol. J. Lipid Res. 2006. 47: 2789-2798.
Journal: Journal of Lipid Research - J LIPID RES , vol. 47, no. 12, pp. 2789-2798, 2006
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