Rapid identification of Smith-Lemli-Opitz syndrome homozygotes and heterozygotes (carriers) by measurement of deficient 7-dehydrocholesterol- Δ7-reductase activity in fibroblasts

Metabolism: Clinical and Experimental

Volumn 46, Issue 7, 1997, Pages 844-850

  Shefer, Sarah ^a   Salen, Gerald ^b   Honda, Akira ^b   Batta, Ashok ^b   Hauser, Susan ^b   Tint, G Stephen ^b   Honda, Megumi ^b   Chen, Thomas ^b   Holick, Michael F ^b   Nguyen, Lien B ^b  

^a RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

7 DEHYDROCHOLESTEROL; OXIDOREDUCTASE;

ARTICLE; CHOLESTEROL METABOLISM; ENZYME ACTIVITY; ENZYME DEFICIENCY; FIBROBLAST; HETEROZYGOTE; HUMAN; HUMAN TISSUE; IMMEDIATE EARLY GENE; PRIORITY JOURNAL; RECEPTOR UPREGULATION; SMITH LEMLI OPITZ SYNDROME; STEM CELL;

EID: 12644267305     PISSN: 00260495     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0026-0495(97)90133-5     Document Type: Article

References (26)

1. Myant NB: The Biology of Cholesterol and Related Sterols. London, UK, Heinemann Medical Books, 1981
2. Spritz N, Singh H, Geyer B: Myelin from human peripheral nerves. Quantitative and qualitative studies in two age groups. J Clin Invest 52:520-529, 1973
3. George R, Davis PJ, Luong L, et al: Cholesterol-mediated regulation of HMG-CoA reductase in microsomes from human skin fibroblasts and rat liver. Biochem Cell Biol 68:674-679, 1990
4. Xu G, Salen G, Shefer S, et al: Different feedback regulation of hepatic cholesterol and bile acid synthesis by glycodeoxycholic acid in rabbits. Gastroenterology 105:1192-1199, 1993
5. Goldstein JL, Brown MS: Review article: Regulation of the mevalonate pathway. Nature 343:425-430, 1990
6. Irons M, Elias ER, Salen G, et al: Defective cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. Lancet 341:1414, 1993 (letter)
7. Tint GS, Irons M, Elias ER, et al: Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med 330:107-113, 1994
8. Salen G, Shefer S, Batta AK, et al: Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. J Lipid Res 37:1169-1180, 1996
9. Honda A, Tint GS, Salen G, et ai: Defective conversion 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes. J Lipid Res 36:1595-1601, 1995
10. 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. J Clin Invest 96:1779-1785, 1995
11. 7-reductase activity in cultured human fibroblasts: A method for the diagnosis of Smith-Lemli-Opitz syndrome. J Inherit Metab Dis 19:59-64, 1996
12. Batta AK, Tint GS, Shefer S, et al: Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3β-ol) in patients with Smith-Lemli-Opitz syndrome. J Lipid Res 36:705-713, 1995
13. Kelley RI: Diagnosis of Smith-Lemli-Opitz syndrome by gaschromatography (mass spectrometry) of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts. Clin Chim Acta 236:45-58, 1995
14. Folch J, Lees M, Sloahe Stanley GH: A simple method for the isolation and purification of total lipids from animal tissues. J Biol Chem 226:497-509, 1957
15. Lowry OH, Rosebrough NJ, Farr AL, et al: Protein measurement with the Folin phenol reagent. J Biol Chem 193:265-275, 1951
16. Havel RJ, Eder HA, Bragdon JH: The distribution and chemical composition of ultracentrifugally separated lipoproteins in human sera. J Clin Invest 34:1345-1353, 1955
17. Goldstein JL, Basu SK, Brown MS: Receptor-mediated endocytosis of low density lipoprotein in cultured cells. Methods Enzymol 98:241-260, 1983
18. Nguyen LB, Shefer S, Salen G, et al: 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 xahthomatosis. Metabolism 37:346-351, 1988
19. Nguyen LB, Shefer S, Salen O, et al: A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis. J Clin Invest 86:923-931, 1990
20. Atman DG, Gardiner MJ: Calculating confidence intervals for regression and correlation, in Gardiner MJ, Altman DG (eds): Statistics With Confidence. London, UK, British Medical Association, 1989, pp 34-39
21. Honda A, Shefer S, Salen G, et al: Regulation of the last two enzymatic reactions in cholesterol biosynthesis in rats: Effect of BM 15.766, cholesterol, cholic acid, lovastatin, and their combinations. Hepatology 24:435-439, 1996
22. Curry CJR, Carey JC, Holland JS, et al: Smith-Lemli-Opitz syndrome type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. Am J Med Genet 26:45-57, 1987
23. Tint GS, Salen G, Batta AK, et al: Severity and outcome correlate with plasma sterol levels in type I and type II variants of the Smith-Lemli-Opitz syndrome. J Pediatr 127:82-87, 1995
24. Jacobs DR Jr: Why is low blood cholesterol associated with risk of nonatherosclerotic disease death? Annu Rev Public Health 14:95-114, 1993
25. Iribarren C, Reed DM, Wergowske G, et al: Serum cholesterol level and mortality due to suicide and trauma in the Honolulu Heart Program. Arch Intern Med 155:695-700, 1995
26. Holick MF, MacLaughlin JA, Doppelt SH: Regulation of cutaneous previtamin photosynthesis in man: Skin pigment is not an essential regulator. Science 211:590-593, 1981