Pathogenesis of malformations in a rodent model for Smith-Lemli-Opitz syndrome

American Journal of Medical Genetics

Volumn 68, Issue 3, 1997, Pages 328-337

  Dehart, D B ^a,d   Lanoue, L ^a   Tint, G S ^b,c   Sulik, K K ^a  

^a UNIVERSITY OF NORTH CAROLINA   (United States)

^b VETERANS AFFAIRS MEDICAL CENTER   (United States)

^c RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

^d UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

animal model; cholesterol biosynthesis inhibitor

Indexed keywords

ANIMAL TISSUE; ARTICLE; BRAIN DEVELOPMENT; BRAIN MALFORMATION; CELL COMMUNICATION; CHOLESTEROL SYNTHESIS; FACE DEVELOPMENT; FACE MALFORMATION; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; RAT; SMITH LEMLI OPITZ SYNDROME;

ANIMALS; CHOLESTEROL; DISEASE MODELS, ANIMAL; EMBRYO; FEMALE; PIPERAZINES; PREGNANCY; RATS; RATS, WISTAR; SMITH-LEMLI-OPITZ SYNDROME; TERATOGENS;

ANIMALIA; RODENTIA;

EID: 0031044526     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970131)68:3<328::AID-AJMG15>3.0.CO;2-V     Document Type: Article

References (36)

1. Allain CC, Poon LS, Chan CS, Richmond W, Fu PC (1974): Enzymatic determination of total serum cholesterol. Clin Chem 29:470.
2. Alley TL, Gray BA, Lee S-H, Scherer S, Tsui L-C, Tint GS, Williams CA, Zori R, Wallace MR (1995): Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient. Am J Hum Genet 56:1411-1416.
3. Aufenager J, Pill J, Stegmeier K, Schmidt FH (1985): Inhibition of cholesterol biosynthesis by BM 15.766. Horm Metabol Res 17:612-613.
4. Barbu V, Roux C, Dupuis R, Gardette J, Maziere JC (1984): Teratogenic effect of AY9944 in rats: Importance of the day of administration and maternal plasma cholesterol level (41842). Proc Soc Exper Bio Med 176:54-59.
5. Barbu V, Roux C, Lambert D, Dupuis R, Gardette J, Maziere JC, Maziere C, Elefant E, Polonovski J (1988): Cholesterol prevents the teratogenic action of AY9944: Importance of the timing of cholesterol supplementation to rats. J Nutr 118:774-779.
6. Belknap WM, Dietschy JM (1988): Sterol synthesis and low density lipoprotein clearance in vivo in the pregnant rat, placenta and fetus. J Clin Invest 82:2077-2085.
7. Brewer LM, Sheardown SA, Brown NA (1993): HMG-CoA reductase mRNA in the post-implantation rat embryo studied by in situ hybridization. Teratology 47:137-146.
8. 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.
9. Chen S, Yang B, Jacobson K, Sulik KK (1996): The membrane disordering effect of ethanol on neural crest cells in vitro and the protective role of GM1 ganglioside. Alcohol (in press).
10. Dehart DB, Lanoue L, Tint GS, Sulik KK (1995): Altered cholesterol biosynthesis in rats: A model for Smith-Lemli-Opitz syndrome. Teratology 51:165.
11. Farese RV Jr, Ruland SL, Flynn LM, Stokowski RP, Young SG (1995): Knockout of the mouse apolipoprotein B gene result in embryonic lethality in homozygotes and protection against diet-induced hypercholesterolemia in hétérozygotes. Natl Acad Sei USA 92: 1774-1778.
12. Farese RV Jr, Cases S, Ruland SL, Kayden HJ, Wong JS, Young SG, Hamilton RL (1996): A novel function for apolipoprotein B: Lipoprotein synthesis in the yolk sac is critical for maternal-fetal lipid transport in mice. J Lipid Res 37:347-360.
13. Gorlin RJ, Cohen MM Jr, Levin LS (1990): "Syndromes of the Head and Neck." New York: Oxford University Press, third edition, pp 890-895.
14. Homanics GE, Maeda N, Traber MG, Kayden HJ, Dehart DB, Sulik KK (1995): Exencephaly and hydrocephaly in mice with targeted modification of the apolipoprotein B (Apob) gene. Teratology 51:1-10.
15. Irons M, Elias ER, Sälen G, Tint GS, Batta AK (1993): Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet 341:1414.
16. Kotch LE, Sulik KK (1992a): Experimental fetal alcohol syndrome: Proposed pathogenic basis for a variety of associated facial and brain anomalies. Am J Med Genet 44:168-176.
17. Kotch LE, Sulik KK (1992b): Patterns of ethanol-induced cell death in the developing nervous system of mice; neural fold stages through the time of anterior neural tube closure. Int J Dev Neurosci 10:273-279.
18. Opitz JM, Penchaszadeh VB, Holt MC, Spano LM (1987): SmithLemli-Opitz (RSH) syndrome bibliography. Am J Med Genet 28:745-750.
19. Opitz JM, Penchaszadeh B, Holt MC, Spano LM, Smith VL (1994): Smith-Lemli-Opitz (RSH) syndrome bibliography: 1964-1993. Am J Med Genet 50:339-343.
20. Pill J, Schmidt FH, Stegmeier K, Witte EC (1985): Effects of BM 15.766 on serum lipids in rats. Horm Metabol Res 17:543-544.
21. Pratt HPM (1982): Preimplantation mouse embryos synthesize membrane sterols. Dev Biol 89:101-110.
22. Repetto M, Maziere JC, Citadelle D, Dupuis R, Meier M, Biade S, Quiec D, Roux C (1990): Teratogenic effect of the cholesterol synthesis inhibitor AY9944 on rat embryos in vitro. Teratology 42:611-618.
23. Roux C (1964): Action teratogène du Triparanol chez l'animal. Arch Franc Pédiatr 21:451-464.
24. Roux C, Horvalh C, Dupuis R (1979): Teratogenic action and embryo lethality of AY9944. Prevention by a hypercholesterolemia-provoking diet. Teratology 19:35-38.
25. Roux C, Dupuis R, Horvath C, Talbot JN (1980): Teratogenic effect of an inhibitor of cholesterol synthesis (AY9944) in rats: Correlation with maternal cholesterolemia. J Nutr 110:2310-2312.
26. Roux C, Wolf C, Mulliez N, Kolf M, Citadelle D, Chevy F, Delaunay MO (1995): Teratogenic action in rats of a new 7DHC reductase inhibitor: BM 15.766. Teratology 51:29A.
27. Smith DW, Lemli L, Opitz JM (1964): A newly recognized syndrome of multiple congenital anomalies. J Pediat 64:210-217.
28. Smith ME, Hasinoff CM, Fumagalli R (1970): Inhibitors of cholesterol synthesis and myelin formation. Lipids 5:665.
29. Sulik KK, Johnston MC (1982): Embryonic origin of holoprosencephaly: Interrelationship of the developing brain and face. Scan Elec Micro 1:309-322.
30. Sulik KK, Lauder JM, Dehart DB (1984): Brain malformations in prenatal mice following acute maternal ethanol administration. Int J Dev Neuro 2:203-214.
31. Sulik KK, Cook CS, Webster WS (1988): Teratogens and craniofacial malformations: Relationships to cell death. Development Suppl 103:213-231.
32. Suzuki K, De Paul L (1971): Cellular degeneration in developing central nervous system of rats produced by hypocholesteremic drug AY9944. Lab Invest 25:54&-555.
33. Tint GS, Irons M, Elias ER, Batta AK, Frieden R, Chen T, Sälen G (1994): Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome New England J Med 330:107-113.
34. Tint GS, Salen G, Batta AK, Shefer S, Irons M, Elias E, Abuelo DN, et al. (1995a): Severity and outcome correlate with plasma sterol levels in type I and type II variants of the Smith-Lemli-Opitz syndrome. J Pediatrics 127:82-87.
35. Tint GS, Seller M, Hughes-Benzie R, Batta AK, Shefer S, Genest D, Irons M, Elias E, Salen G (1995b): Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of Smith-Lemli-Opitz syndrome. J Lipid Res 36:89-95.
36. Xu G, Salen G, Shefer S, Ness GC, Chen TS, Zhao Z, Tint GS (1995): Reproducing'abnormal cholesterol biosynthesis as seen in the Smith-Lemli-Opitz syndrome by inhibiting the conversion of 7-dehydrocholesterol to cholesterol in rats. J Clin Invest 95:76-81.