Intestinal absorption of cholesterol by patients with Smith-Lemli-Opitz syndrome

Pediatric Research

Volumn 57, Issue 6, 2005, Pages 765-770

  Lin, Don S ^a   Steiner, Robert D ^b   Flavell, Donna P ^a   Connor, William E ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

7 DEHYDROCHOLESTEROL; 7 DEHYDROCHOLESTEROL DELTA7 REDUCTASE; CARBON 14; CHOLESTEROL; OXIDOREDUCTASE; TRACER; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BLOOD SAMPLING; CHILD; CHOLESTEROL INTAKE; CHOLESTEROL SYNTHESIS; CHOLESTEROL TRANSPORT; CLINICAL ARTICLE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; EGG YOLK; ENZYME DEFICIENCY; FECES ANALYSIS; FEMALE; HUMAN; HYPERCHOLESTEROLEMIA; INFANT; INTESTINE ABSORPTION; ISOTOPE LABELING; LIPID ABSORPTION; MALE; NORMAL VALUE; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME; SUSPENSION; TEST MEAL;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHOLESTEROL; CHOLESTEROL, DIETARY; EGG YOLK; FEMALE; HUMANS; INFANT; INTESTINAL ABSORPTION; MALE; SMITH-LEMLI-OPITZ SYNDROME;

EID: 19444387707     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/01.PDR.0000157723.98422.B5     Document Type: Article

References (47)

1. Smith D, Lemli L, Opitz JM 1964 A newly recognized syndrome of multiple congenital anomalies. J Pediatr 64:210-217
2. Curry CJ, Carey JC, Holland JS, Chopra D, Fineman R, Golabi M, Sherman S, Pagon RA, Allanson J, Shulman S, Barr M, et al. 1987 Smith-Lemli-Opitz syndrome type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. Am J Med Genet 26:45-57
3. Pober B 1990 Smith-Lemli-Opitz syndrome. In: Buyse M (ed) Birth Defects Encyclopedia. Blackwell Scientific. Dover, pp 1570-1572
4. Optiz JM, Pechaszadeh VB, Holt MC, Spano LM 1987 Smith-Lemli-Opitz (RSH) syndrome bibliography. Am J Med Genet 28:745-750
5. Chasalow FI, Blethen SL, Taysi K 1985 Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parents. Steroids 46:827-843
6. Natowicz MR, Evans JE 1994 Abnormal bile acids in the Smith-Lemli-Opitz syndrome. Am J Med Genet 50:364-367
7. Cunniff C, Kratz LE, Moser A, Natowicz MR, Kelley RI 1997 Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. Am J Med Genet 68:263-269
8. Ryan AK, Bartlett K, Clayton P, Eaeton S, Mills L, Donnai D, Winter RM, Burn J 1998 Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. J Med Genet 35:558-565
9. Battaile KP, Battaile B, Merkens LS, Maslen CL, Steiner RD 2001 Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome. Mol Genet Metab 72:67-71
10. Tint GS, Irons M, Elias ER, Batta AK, Frieden R, Chen TS, Salen G 1994 Defective cholesterol biosynthesis associated with Smith-Lemli-Opitz syndrome. N Engl J Med 330:107-113
11. Irons ME, Elias ER, Salen G, Tint GS, Batta AK 1993 Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet 341:1414
12. Tint GS 1993 Cholesterol defect in Smith-Lemli-Opitz syndrome. Am J Med Genet 47:573-574
13. Tint GS, Seller M, Hughes-Benzie R, Batta AK, Shefer S, Genest D, Irons M, Elias E, Salem G 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
14. Honda A, Tint GS, Salen G, Batta AK, Chen TS, Shefer S 1995 Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes. J Lipid Res 36:1595-1601
15. Shefer S, Salen G, Batta AK, Honda A, Tint GS, Irons M, Elias ER, Chen TC, Holick MF 1995 Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. J Clin Invest 96:1179-1785
16. Fitzky BU, Witsch-Baumgartner M, Erdel M, Lee JN, Paik YK, Glossman H, Uterman G, Moebius FF 1998 Mutations in the delta 7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proc Natl Acad Sci USA 95:8181-8186
17. Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD 1998 Mutations in the human sterol delta 7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Am J Hum Genet 63:55-62
18. Waterham HR, Wijburg FA, Hennekam RC, Vreken P, Poll-The BT, Dorland L, Duran M, Jira PE, Smeitink JA, Wevers RA, Wanders RJ 1998 Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. Am J Hum Genet 63:329-338
19. Porter JA, von Kessler DP, Ekker SC, Young KE, Lee JJ, Moses K, Beachy PA 1995 The product of hedgehog autoproteolytic cleavage active in local and long-range signaling. Nature 374:363-366
20. Porter JA, Young KE, Beachy PA 1996 Cholesterol modification of hedgehog signaling proteins in animal development. Science 274:255-259
21. Porter JA, Ekker SC, Park WJ, von Kessler DP, Young KE, Chen CH, Ma Y, Woods AS, Cotter RJ, Konnin EV, Beachy PA 1996 Hedgehog patterning activity: role of a lipophilic modification mediated by the carboxy-terminal autoprocessing domain. Cell 86:21-34
22. Cooper MK, Porter JA, Young KE, Beachy PA 1998 Teratogen-mediated inhibition of target tissue response to Shh signaling. Science 280:1603-1607
23. Xu GR, Servatius RJ, Shefer S, Tinit GS, O'Brien WT, Batta AK, Salen G 1998 Relationship between abnormal cholesterol synthesis and retarded learning in rats. Metabolism 47:878-882
24. Gaoua W, Chevy F, Roux C, Wolf C 1999 Oxidized derivatives of 7-dehydrocholesterol induce growth retardation in cultured rat embryos: a model for antenatal growth retardation in the Smith-Lemli-Opitz syndrome. J Lipid Res 40:456-463
25. Steiner RD, Linck LM, Flavell DP, Lin DS, Connor WE 2000 Sterol balance in Smith-Lemli-Opitz syndrome. Reduction in whole body cholesterol synthesis and normal bile acid production. J Lipid Res 41:1437-144
26. Linck LM, Lin DS, Flavell D, Connor WE, Steiner RD 2000 Cholesterol supplementation with egg yolk increase plasma cholesterol and decrease plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome. Am J Med Genet 93:360-365
27. Irons M, Elias ER, Tint GS, Salen, G Frieden R, Buie TM, Ampola M 1994 Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient. Am J Med Genet 50:347-352
28. Cook RP, Edwards DC, Riddle C 1956 Cholesterol metabolism. 7. Cholesterol absorption and excretion in man. Biochem J 62:225-234
29. Wang DQ, Carey MC 2003 Measurement of intestinal cholesterol absorption by plasma and fecal dual-isotope ratio, mass balance, and lymph fistula methods in the mouse: an analysis of direct versus indirect methodologies. J Lipid Res 44:1042-1059
30. Irons M, Elias ER, Abuelo D, Bull MJ, Greene CL, Johnson VP, Keppen L, Schanen C, Tint GS, Salen G 1997 Treatment of SLO syndrome: results of a multi center trial. Am J Med Genet 68:311-314
31. Connor WE, Lin DS 1974 The intestinal absorption of dietary cholesterol by hypercholesterolemic (type II) and normocholesterolemic humans. J Clin Invest 53:1062-1070
32. Rapp JH, Connor WE, Lin DS, Inahara T, Porter JM 1983 Lipids of human atherosclerotic plaques and xanthomas: clues to the mechanism of plaque progression. J Lipid Res 24:1329-1335
33. Lin DS, Connor WE 1980 The long term effects of dietary cholesterol upon the plasma lipids, lipoproteins, cholesterol absorption, and the sterol balance in man: the demonstration of feedback inhibition of cholesterol biosynthesis and increased bile acid excretion. J Lipid Res 21:1042-1052
34. Miettinen TA, Ahrens EH Jr, Grundy SM 1965 Quantitative isolation and gas-liquid chromatography analysis of total dietary and fecal neutral steroids. J Lipid Res 79:411-424
35. Carter GA, Connor WE, Bhattacharyya AK, Lin DS 1979 The cholesterol turnover, synthesis, and absorption in two sisters with familial hypercholesterolemia (type IIa). J Lipid Res 20:66-77
36. Diliberti JH, McMurry MP, Connor WE, Alaupovic P 1984 Hypercholesterolemia associated with alpha-1-antitrypsin deficiency and hepatitis: lipoprotein and apoprotein determinations, sterol balance and treatment. Am J Med Sci 288:81-85
37. Illingworth DR, Connor WE, Lin DS, Diliberti J 1980 Lipid metabolism in abetalipoproteinemia: a study of cholesterol absorption and sterol balance in two patients. Gastroenterology 78:68-75
38. Illingworth DR, Connor WE, Buist NR, Jhaveri BM, Lin DS, McMurry MP 1979 Sterol balance in abetalipoproteinemia: studies in a patient with homozygous familial hypobetalipoproteinemia. Metabolism 28:1152-1160
39. Treadwell CR, Vahouny GV 1968 Cholesterol absorption. Handbook of Physiology. Sec. 6. Alimentary Canal Vol. III. American Physiological Society, Washington, DC, pp. 1407-1438
40. Grundy SM 1983 Absorption and metabolism of dietary cholesterol. Am Rev Nutr 3:71-96
41. Gaoua W, Wolf C, Chevy F, Ilien F, Roux C 2000 Cholesterol deficit but not accumulation of aberrant sterols is the major cause of the teratogenic activity in the Smith-Lemli-Opitz syndrome animal model. J Lipid Res 41:637-646
42. Wassif CA, Vied D, Tsokos M, Connor WE, Steiner RD, Porter FD 2002 Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts. Mol Genet Metab 75:325-334
43. McNiesh J, Alello RJ, Guyot D, Turl T, Gabel C, Aldinger C, Hoppe KL, Roach ML, Royer LJ, de Wet J, Broccardo C, Chimini G, Francone OL 2000 High density lipoprotein deficiency and foam cell accumulation in mice with targeted disruption of ATP-binding cassette transporter-1. Proc Natl Acad Sci USA 97:4245
44. Repa JJ, Turley SD, Lobaccaro JA, Medina J, Li L, Lustig K, Shan B, Heyman RA, Dietschy JM, Mangelsdorf DJ 2000 Regulation of absorption and ABC1-mediated efflux of cholesterol by RXR heterodimers. Science 289:1527
45. Allayee H, Laffitte BA, Lusis AJ 2000 Biochemistry. An absorbing study of cholesterol. Science 290:1709-171
46. Wilson JD, Lindsey CH Jr 1965 Studies on the influence of dietary cholesterol metabolism in isotopic steady state in man. J Clin Invest 44:1805-1814
47. Turley SD, Herndon MW, Dietschy JM 1994 Reevaluation and application of dual-isotope plasma ratio method for the measurement of intestinal cholesterol absorption in the hamster. J Lipid Res 35:328-339