Increased expression of low-density lipoprotein receptors in a smith-lemli-opitz infant with elevated bilirubin levels

American Journal of Medical Genetics

Volumn 68, Issue 3, 1997, Pages 294-299

  Ness, Gene C ^a,b   Lopez, Dayami ^a   Borrego, Orestes ^a   Gilbert Harness, Enid ^b  

^a UNIVERSITY OF SOUTH FLORIDA   (United States)

^b UNIVERSITY OF SOUTH FLORIDA   (United States)

Author keywords

Bilirubin; Low density lipoprotein; Receptor; Smith lemli opitz syndrome

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR;

ARTICLE; BILIRUBIN BLOOD LEVEL; CASE REPORT; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL SYNTHESIS; FEMALE; HUMAN; HUMAN TISSUE; INFANT; PRIORITY JOURNAL; PROTEIN EXPRESSION; SMITH LEMLI OPITZ SYNDROME;

BILIRUBIN; BRAIN; DEHYDROCHOLESTEROLS; FEMALE; HUMANS; INFANT; LIVER; PANCREAS; RECEPTORS, LDL; SMITH-LEMLI-OPITZ SYNDROME;

EID: 0031044655     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19970131)68:3<294::aid-ajmg9>3.0.co;2-m     Document Type: Article

References (13)

1. Batta AK, Tint DS, Shefer S, Abuelo D, Salen G (1995): Identification of 8-dehydrochoIesterol (cholesta 5,8 dien 3β öl) in patients with Smith-Lemli-Opitz syndrome. J Lipid Res 36:705-713.
2. Curry CJR, Carey JC, Holland JS, Chopra D, Fineman R, Golabi M, Sherman S, Pagon RA, Allanson J, Shulman S, Barr M, McGravey V, Dabiri C, Schimke N, Ives E, Hall BD (1987): Smith-LemliOpitz syndrome-Type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. Am J Med Genet 26:45-57.
3. Irons M, Elias MR, Tint GS, Sälen G, Frieden R, Buie TM, Ampola M (1994): Abnormal cholesterol metabolism in the Smith-LemliOpitz syndrome: Report of clinical and biochemical findings in four patients and treatment in one patient. Am J Med Genet 50:347-352.
4. Irons M, Elias ER, Abuelo D, Tint GS, Sälen G (1995): Clinical features of the Smith-Lemli-Opitz syndrome and treatment of the cholesterol metabolic defect. Int Pediatr 10:28-32.
5. Lowry R, Yong SL (1980): Borderline normal intelligence in the Smith-Lemli-Opitz syndrome. Am J Med Genet 5:137-143.
6. Ness GC, Zhao Z (1994): Thyroid hormone rapidly induces hepatic LDL receptor mRNA levels in hypophysectomized rats. Arch Biochem Biophys 315:199-202.
7. Ness GC, Keller RK, Pendleton LC (1991): Feedback regulation of hepatic 3-hydroxy-3-methylglutaryl CoA reductase activity by di-ctary cholesterol is not due to altered mRNA levels. J Biol Chem 266:14854-14857.
8. Salen G, Shefer S, Batta AK, Tint GS (1995): Biochemical abnormalities in the Smith-Lemli-Opitz syndrome. Int Pediatr 10:33-36.
9. Sattler W, Leis HJ, Kostner GM, Malle E (1995): Quantification of 7-dehydrocholesterol in plasma and amniotic fluid chromatography/particle beam-mass spectrometry as a biochemical diagnostic marker for the Smith-Lemli-Opitz syndrome. Rapid Commun Mass Spec 9:1288-1292.
10. Takahashi S, Carabosa Y, Nakai T, Sakai J, Yamamoto T (1992): Rabbit very low density lipoprotein receptor: A low density lipoprotein receptor-like protein with distinct ligand specificity. Proc Natl Acad Sei USA 89:9252-9256.
11. Tint GS, Irons M, Elias ER, Batta AK, Frieden R, Chen TS, Sälen G (1994): Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med 330:107-113.
12. Tint GS, Seller M, Hughes-Benzie R, Batta AK, Shefer S, Genest D, Irons M, Elias E, Salen G (1995): Markedly increased tissue concentration of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome. J Lipid Res 36:89-95.
13. 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.