7-dehydrocholesterol down-regulates cholesterol biosynthesis in cultured Smith-Lemli-Opitz syndrome skin fibroblasts

Journal of Lipid Research

Volumn 39, Issue 3, 1998, Pages 647-657

  Honda, Megumi ^a   Tint, G S ^a,b   Honda, Akira ^a   Nguyen, Lien B ^a   Chen, Thomas S ^a,b   Shefer, Sarah ^a  

^a RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

^b VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

HMG CoA redutase; HMG CoA synthase; Ketoconazole; LDL receptor; Plasma sterols

Indexed keywords

4 [2 [1 (4 CHLOROCINNAMYL) 4 PIPERAZINYL]ETHYL]BENZOIC ACID; 7 DEHYDROCHOLESTEROL; CHOLESTEROL; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE; HYDROXYMETHYLGLUTARYL COENZYME A SYNTHASE; KETOCONAZOLE; LOW DENSITY LIPOPROTEIN RECEPTOR; STEROL DERIVATIVE;

ARTICLE; BIRTH DEFECT; CHOLESTEROL SYNTHESIS; CONTROLLED STUDY; DOWN REGULATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; HUMAN; HUMAN CELL; MENTAL RETARDATION MALFORMATION SYNDROME; PRIORITY JOURNAL; RECEPTOR BINDING; SKIN FIBROBLAST; SMITH LEMLI OPITZ SYNDROME;

CELLS, CULTURED; CHOLESTEROL; DEHYDROCHOLESTEROLS; FIBROBLASTS; HUMANS; HYDROXYMETHYLGLUTARYL COA REDUCTASES; HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS; KETOCONAZOLE; SMITH-LEMLI-OPITZ SYNDROME;

EID: 0031919848     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (48)

1. Smith, D. W., L. Lemli, and J. M. Opitz. 1964. A newly recognized syndrome of multiple congenital anomalies. J. Pediatr. 64: 210-217.
2. Honda, A., G. S. Tint, G. Salen, A. K. Batta, T. S. Chen, and S. Shefer. 1995. Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes. J. Lipid Res. 36:1595-1601.
3. 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. J. Clin. Invest. 96: 1779-1785.
4. Chasalow, F. I., S. L. Blethen, and K. Taysi. 1985. Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parents. Steroids. 46: 827-843.
5. Curry, C. J. R., J. C. Carey, J. S. Holland, D. Chopra, R. Fineman, M. Golabi, S. Sherman, R. A. Pagon, J. Allanson, S. Shulman, M. Barr, V. McGravey, C. Dabiri, N. Schimke, E. Ives, and B. D. Hall. 1987. Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. Am. J. Med. Genet. 26: 45-57.
6. Gorlin, R. J., M. M. Cohen, Jr., and L. S. Levin. 1990. Syndromes of the Head and Neck. 3rd ed. Oxford University Press, New York, NY. 890-895.
7. Pober, B., C. J. R. Curry, and J. C. Rutledge. 1990. Smith-Lemli-Opitz syndrome. In Birth Defects Encyclopedia. M. L. Buyse, editor. Center for Birth Defects Information Services, in association with Blackwell Scientific, Dover, MA. 1570-1572.
8. Tint, G. S., M. Seller, R. Hughes-Benzie, A. K. Batta, S. Shefer, D. Genest, M. Irons, E. Elias, and G. Salen. 1995. Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome. J. Lipid Res. 36: 89-95.
9. Batta, A. K., G. S. Tint, S. Shefer, D. Abuelo, and G. Salen. 1995. Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3β-ol) in patients with Smith-Lemli-Opitz syndrome. J. Lipid Res. 36: 705-713.
10. Chiang, C., Y. Litingtung, E. Lee, K. E. Young, J. L. Corden, H. Westphal, and P. A. Beachy. 1996. Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. Nature. 383: 407-413.
11. Tint, G. S., M. Irons, E. R. Elias, A. K. Batta, R. Frieden, T. S. Chen, and G. Salen. 1994. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N. Engl. J. Med. 330: 107-113.
12. Tint, G. S., G. Salen, A. K. Batta, S. Shefer, M. Irons, E. R. Elias, D. N. Abuelo, V. P. Johnson, M. Lambert, R. Lutz, C. Schauen, C. A. Morris, G. Hoganson, and R. Hughes-Benzie. 1995. Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. J Pediatr. 127: 82-87.
13. 7-reductase activity in fibroblasts. Metabolism. 46: 844-850.
14. Honda, A., G. S. Tint, G. Salen, R. I. Kelley, M. Honda, A. K. Batta, T. S. Chen, and S. Shefer. 1997. Sterol concentrations in cultured Smith-Lemli-Opitz syndrome skin fibroblasts: diagnosis of a biochemically atypical case of the syndrome. Am. J. Med. Genet. 68: 282-287.
15. 3 in human skin and the physiologic consequences. Science. 210: 203-205.
16. 3 photosynthesis in man: skin pigment is not an essential regulator. Science. 211: 590-593.
17. Capriotti, A. M., and M. Laposata. 1987. Identification of variables critical to reproducible delipidation of serum. J. Tissue Culture Methods. 10: 219-221.
18. Goldstein, J. L., S. K. Basu, and M. S. Brown. 1983. Receptor-mediated endocytosis of low-density lipoprotein in cultured cells. Methods Enzymol. 98: 241-260.
19. Lowry, O. H., N. J. Rosebrough, A. L. Farr, and R. J. Randall. 1951. Protein measurement with the Folin phenol reagent. J. Biol. Chem. 193: 265-275.
20. Clinkenbeard, K. D., W. D. Reed, R. A. Mooney, and M. D. Lane. 1975. Intracellular localization of the 3-hydroxy-3-methylglutaryl coenzyme A cycle enzymes in liver. J. Biol. Chem. 250: 3108-3116.
21. Scharnagl, H., W. März, M. Schliack, R. Löser, and W. Gross. 1995. A novel assay for cytosolic 3-hydroxy-3-methylglutaryl coenzyme A synthase activity using reversed-phase ion-pair chromatography: demonstration that Lifibrol (K12.148) modulates the enzyme activity. J. Lipid Res. 36: 622-627.
22. Nguyen, L. B., S. Shefer, G. Salen, I. Horak, G. S. Tint, and D. J. McNamara. 1988. The effect of abnormal plasma and cellular sterol content and composition on low density lipoprotein uptake and degradation by monocytes and lymphocytes in sitosterolemia with xanthomatosis. Metabolism. 37: 346-351.
23. Lane, D. M., and W. J. McConathy. 1986. Changes in the serum lipids and apolipoproteins in the first four weeks of life. Pediatr. Res. 20: 332-337.
24. Wong, W. W., D. L. Hachey, W. Insull, A. R. Opekun, and P. D. Klein. 1993. Effect of dietary cholesterol on cholesterol synthesis in breast-fed and formula-fed infants. J. Lipid Res. 34: 1403-1411.
25. Frerichs, R. R., S. R. Srinivasan, L. S. Webber, and G. S. Berenson. 1976. Serum cholesterol and triglyceride levels in 3,446 children from a biracial community. Circulation. 54: 302-318.
26. Kandutsch, A. A., and H. W. Chen. 1973. Inhibition of sterol synthesis in cultured mouse cells by 7α-hydroxycholesterol, 7β-hydroxycholesterol, and 7-ketocholesterol. J. Biol. Chem. 248: 8408-8417.
27. Brown, M. S., and J. L. Goldstein. 1974. Suppression of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity and inhibition of growth of human fibroblasts by 7-ketocholesterol. J. Biol. Chem. 249: 7306-7314.
28. Brown, M. S., and J. L. Goldstein. 1980. Multivalent feedback regulation of HMG-CoA reductase, a control mechanism coordinating isoprenoid synthesis and cell growth. J. Lipid Res. 21: 505-517.
29. Nakanishi, M., J. L. Goldstein, and M. S. Brown. 1988. Multivalent control of 3-hydroxy-3-methylglutaryl coenzyme A reductase. J. Biol. Chem. 263: 8929-8937.
30. Goldstein, J. L., and M. S. Brown. 1990. Regulation of the mevalonate pathway. Nature. 343: 425-430.
31. Berger, R., G. P. A. Smit, H. Schierbeek, K. Bijsterveld, and R. le Coultre. 1985. Mevalonic aciduria: an inborn error of cholesterol biosynthesis? Clin. Chim. Acta. 152: 219-222.
32. Hoffmann, G., K. M. Gibson, I. K. Brandt, P. I. Bader, R. S. Wappner, and L. Sweetman. 1986. Mevalonic aciduria -an inborn error of cholesterol and nonsterol isoprene biosynthesis. N. Engl. J. Med. 314: 1610-1614.
33. Gibson, K. M., G. Hoffmann, W. L. Nyhan, L. Sweetman, R. Berger, R. le Coultre, and G. P. A. Smit. 1988. Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria. Eur. J. Pediatr. 148: 250-252.
34. Gibson, K. M., G. Hoffmann, A. Schwall, R. L. Broock, S. Aramaki, L. Sweetman, W. L. Nyhan, I. K. Brandt, R. S. Wappner, W. Lehnert, and F. H. Trefz. 1990. 3-Hydroxy-3-methylglutaryl coenzyme A reductase activity in cultured fibroblasts from patients with mevalonate kinase deficiency: differential response to lipid supplied by fetal bovine serum in tissue culture medium. J. Lipid Res. 31: 515-521.
35. Chang, T. Y., C. Telakowski, W. Vanden Heuvel, A. W. Alberts, and P. R. Vagelos. 1977. Isolation and partial characterization of a cholesterol-requiring mutant of Chinese hamster ovary cells. Proc. Natl. Acad. Sci. USA. 74: 832-836.
36. Berry, D. J., and T. Y. Chang. 1982. Further characterization of a Chinese hamster ovary cell mutant defective in lanosterol demethylation. Biochemistry. 21: 573-580.
37. Trzaskos, J. M., R. L. Magolda, M. F. Favata, R. T. Fischer, P. R. Johnson, H. W. Chen, S. S. Ko, D. A. Leonard, and J. L. Gaylor. 1995. Substrate-based inhibitors of lanosterol 14α-methyl demethylase. I. assessment of inhibitor structure-activity relationship and cholesterol biosynthesis inhibition properties. Biochemistry. 34: 9670-9676.
38. Kandutsch, A. A., H. W. Chen, and H. J. Heiniger. 1978. Biological activity of some oxygenated sterols. Science. 201: 498-501.
39. Gupta, A., R. C. Sexton, and H. Rudney. 1986. Modulation of regulatory oxysterol formation and low density lipoprotein suppression of 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase activity by ketoconazole. J. Biol. Chem. 261: 8348-8356.
40. Saucier, S. E., A. A. Kandutsch, A. K. Gayen, D. K. Swahn, and T. A. Spencer. 1989. Oxysterol regulators of 3-hydroxy-3-methylglutaryl-CoA reductase in liver. J. Biol. Chem. 264: 6863-6869.
41. Axelson, M., and O. Larsson. 1995. Low density lipoprotein (LDL) cholesterol is converted to 27-hydroxycholesterol in human fibroblasts. J. Biol. Chem. 270: 15102-15110.
42. Santen, R. J., H. Van den Bossche, J. Symoens, J. Brugmans, and R. De Coster. 1983. Site of action of low dose ketoconazole on androgen biosynthesis in men. J. Clin. Endocrinol. Metab. 57: 732-736.
43. Loose, D. S., P. B. Kan, M. A. Hirst, R. A. Marcus, and D. Feldman. 1983. Ketoconazole blocks adrenal steroidogenesis by inhibiting cytochrome P-450-dependent enzymes. J. Clin. Invest. 71: 1495-1499.
44. 3 derivatives on cholesterol synthesis and HMG-CoA reductase activity in cultured cells. J. Lipid Res. 30: 379-386.
45. Wang, X., R. Sato, M. S. Brown, X. Hua, and J. L. Goldstein. 1994. SREBP-1, a membrane-bound transcription factor released by sterol-regulated proteolysis. Cell. 77: 53-62.
46. Shimano, H., J. D. Horton, R. E. Hammer, I. Shimomura, M. S. Brown, and J. L. Goldstein. 1996. Overproduction of cholesterol and fatty acids causes massive liver enlargement in transgenic mice expressing truncated SREBP-1a. J. Clin. Invest. 98: 1575-1584.
47. Axelson, M. 1991. Occurrence of isomeric dehydrocholesterols in human plasma. J. Lipid Res. 32: 1441-1448.
48. Steiner, R. D., L. Linck, D. Lin, and W. E. Connor. 1997. Cholesterol and bile acid synthesis in Smith-Lemli-Opitz syndrome. J. Invest. Med. 45: 106A.