Hydrophilic 7β-Hydroxy Bile Acids, Lovastatin, and Cholestyramine Are Ineffective in the Treatment of Cerebrotendinous Xanthomatosis

Metabolism: Clinical and Experimental

Volumn 53, Issue 5, 2004, Pages 556-562

  Batta, Ashok K ^a   Salen, Gerald ^b   Tint, G Stephen ^b  

^a VETERANS AFFAIRS MEDICAL CENTER   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALCOHOL DERIVATIVE; BILE ACID; CHENODEOXYCHOLIC ACID; CHOLESTANOL; CHOLIC ACID; COLESTYRAMINE; MEVINOLIN; URSOCHOLIC ACID; URSODEOXYCHOLIC ACID;

ADULT; ARTICLE; CASE REPORT; CEREBROTENDINOUS XANTHOMATOSIS; DRUG EFFICACY; GAS LIQUID CHROMATOGRAPHY; HUMAN; MALE; PRIORITY JOURNAL; THIN LAYER CHROMATOGRAPHY;

EID: 2342505868     PISSN: 00260495     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.metabol.2003.12.003     Document Type: Article

References (36)

1. Salen G, Shefer S, Berginer VM: Familial diseases with storage other than cholesterol (cerebrotendinous xanthomatosis and sitosterolemia with xanthomatosis), in Stanbury JB, Wijngaarden JB, Fredrickson DS, et al (eds): The Metabolic Basis of Inherited Disease (ed 5). New York, NY, McGraw-Hill, 1983, pp 713-730
2. Setoguchi T, Salen G, Tint GS, et al: A biochemical abnormality in cerebrotendinous xanthomatosis. Impairment of bile acid biosynthesis associated with incomplete degradation of cholesterol side-chain. J Clin Invest 53:1393-1401, 1974
3. Salen G, Meriwether TW, Nicolou G: Chenodeoxycholic acid inhibits increased cholesterol and cholestanol synthesis in patients with cerebrotendinous xanthomatosis. Biochem Med 14:57-74, 1975
4. Berginer VM, Salen S, Shefer S: Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Engl J Med 311:1649-1652, 1984
5. Batta AK, Salen G, Shefer S, et al: Increased plasma bile alcohol glucuronides in patients with cerebrotendinous xanthomatosis: Effect of chenodeoxycholic acid. J Lipid Res 28:1006-1012, 1987
6. Batta AK, Shefer S, Batta M, et al: Effect of chenodeoxycholic acid on biliary and urinary bile acids and bile alcohols in cerebrotendinous xanthomatosis: Monitoring by high performance liquid chromatography. J Lipid Res 26:690-698, 1985
7. Wolthers BG, Volmer M, van der Molen JC, et al: Diagnosis of cerebrotendinous xanthomatosis (CTX) and effect of chenodeoxycholic acid therapy by analysis of urine using capillary gas-liquid chromatography. Clin Chim Acta 131:53-65, 1983
8. Salen G, Berginer VM, Shore V, et al: Increased concentrations of cholestanol and apolipoprotein B in the cerebrospinal fluid of patients with cerebrotendinous xanthomatosis: Effect of chenodeoxycholic acid. N Engl J Med 316:1233-1238, 1987
9. Kimura S, Beppu T, Kugai N, et al: A case of CTX: Effects of ursodeoxycholic acid administration on serum bile acids and cholestanol. Jpn J Med 21:210-215, 1982
10. Koopman BJ, Wolthers WG, van der Molen JC, et al: Capillary gas chromatographic determinations of urinary bile acids and bile alcohols in CTX patients proving the ineffectivity of ursodeoxycholic acid treatment. Clin Chim Acta 142:103-111, 1984
11. Koopman BJ, Wolthers WG, van der Molen JC, et al: Bile acid therapies applied to patients suffering from CTX. Clin Chim Acta 152:115-122, 1985
12. Salen G, Grundy SM: The metabolism of cholesterol, cholestanol and bile acids in cerebrotendinous xanthomatosis. J Clin Invest 52:2822-2835, 1973
13. Salen G, Batta AK, Tint GS, et al: Comparative effects of lovastatin and chenodeoxycholic acid on plasma cholestanol levels and abnormal bile acid metabolism in cerebrotendinous xanthomatosis. Metabolism 43:1018-1022, 1994
14. Verrips A, Wevers RA, van Engelen BGM, et al: Effect of simvastatin in addition to chenodeoxycholic acid in patients with CTX. Metabolism 48:233-238, 1999
15. Dayal B, Shefer S, Tint GS, et al: Synthesis of 5β -cholestane-3α,7α,12α,25-tetrol and 5β -cholestane-3α,7α,12α,24ι,25-pentol. J Lipid Res 17:74-77, 1976
16. Hoshita T: Stero-bile acids and bile sterols. XLVII. Syntheses of 3α,7α,12α,25ι,26- and 3α,7α,12α ,23ι,25-pentahydroxycoprostanes. J Biochem 52:176-179, 1962
17. Batta AK, Arora R, Salen G, et al: Characterization of serum and urinary bile acids in patients with primary biliary cirrhosis by gas-liquid chromatography-mass spectrometry: Effect of ursodeoxycholic acid treatment. J Lipid Res 30:1953-1962, 1989
18. Batta AK, Aggarwal SK, Mirchandani R, et al: Capillary gas-liquid chromatographic separation of bile alcohols. J Lipid Res 33: 1403-1407, 1992
19. Batta AK, Aggarwal SK, Tint GS, et al: Capillary gas-liquid chromatography of 6-hydroxylated bile acids. J Chromatogr 704:228-233, 1995
20. Tint GS, Dayal B, Batta AK, et al: Gas-liquid chromatography-mass spectrometry of bile alcohols. J Lipid Res 19:956-965, 1978
21. Koopman BJ, Wolthers WG, van der Molen JC, et al: Increased (23R)-hydroxylase activity in patients suffering from cerebrotendinous xanthomatosis, resulting in (23R)-hydroxylation of bile acids. Biochim Biophys Acta 883:585-592, 1986
22. Salen G, Tint GS, Deering N, et al: Increased formation of ursodeoxycholic acid in patients treated with chenodeoxycholic acid. J Clin Invest 53:612-621, 1974
23. Fedorowski T, Salen G, Tint GS, et al: Transformation of chenodeoxycholic acid and ursodeoxycholic acid by human intestinal bacteria. Gastroenterology 77:1068-1073, 1979
24. Tint GS, Batta AK, Dayal B, et al: Metabolism of ursocholic acid in man: Conversion of ursocholic acid to deoxycholic acid. Hepatology 15:645-650, 1992
25. Eder HA: Drugs used in the prevention and treatment of atherosclerosis, in Goodman LS, Gilman AG, Koelle GB (eds): The Pharmacological Basis of Therapeutics (ed 5). New York, NY, Macmillan, 1975, pp 744-752
26. Koopman BJ, Waterreus RJ, van der Brekel HWC, et al: Detection of carriers of cerebrotendinous xanthomatosis. Clin Chim Acta 158:179-186, 1986
27. Tint GS, Salen G, Shefer S: Effect of ursodeoxycholic acid and chenodeoxycholic acid on cholesterol and bile acids metabolism. Gastroenterology 91:1007-1018, 1986
28. Lanzini A, Pigozzi G, Facchinetti D, et al: Effect of chronic ursocholic acid on bile lipid composition and bile acid pool size in gallstone patients. Scand J Gastroenterol 25:711-719, 1990
29. Cali J-J, Hsieh C-L, Francke U, et al: Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem 266:7779-7783, 1991
30. Makishima M, Okamoto AY, Repa JJ, et al: Identification of a nuclear receptor for bile acids. Science 284:1362-1365, 1999
31. Parks DJ, Blanchard SC, Bledsoe RK, et al: Bile acids: Natural ligands for an orphan nuclear receptor. Science 284:1365-1368, 1999
32. Koopman BJ, van der Molen JC, Wolthers BG, et al: Determination of some hydroxycholesterols in human serum samples. J Chromatogr 416:1-13, 1987
33. Rosen H, Reshef A, Maeda N, et al: Markedly reduced bile acid synthesis but maintained levels of cholesterol and vitamin D metabolites in mice with disrupted sterol 27-hydroxylase gene. J Biol Chem 273:14805-14812, 1998
34. Lewis B, Mitchell WD, Marenak CB, et al: Cerebrotendinous xanthomatosis: Biochemical response to inhibition of cholesterol synthesis. Br Med J 287:21-22, 1983
35. Lee M-H, Hazard S, Carpten JD, et al: Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees. J Lipid Res 42:159-169, 2001
36. -/- mice but not in cerebrotendinous xanthomatosis. J Biol Chem 276:34579-34585, 2001