On the mechanism of cerebral accumulation of cholestanol in patients with cerebrotendinous xanthomatosis

Journal of Lipid Research

Volumn 48, Issue 5, 2007, Pages 1167-1174

  Panzenboeck, Ute ^a   Andersson, Ulla ^b   Hansson, Magnus ^b   Sattler, Wolfgang ^a   Meaney, Steve ^b   Björkhem, Ingemar ^b  

^a MEDICAL UNIVERSITY OF GRAZ   (Austria)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Blood brain barrier; Brain endothelial cells; Brain xanthomas

Indexed keywords

7ALPHA HYDROXYCHOLEST 4 EN 3 ONE; 7ALPHA HYDROXYCHOLESTEROL; CHENODEOXYCHOLIC ACID; CHOLESTANOL; STEROID; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; BILE ACID SYNTHESIS; BLOOD BRAIN BARRIER; BRAIN METABOLISM; CELL CULTURE; CEREBROTENDINOUS XANTHOMATOSIS; CONTROLLED STUDY; ENDOTHELIUM CELL; HUMAN; HUMAN CELL; NONHUMAN; PRIORITY JOURNAL; XANTHOMA;

ANIMALS; BRAIN; CELL DIFFERENTIATION; CELLS, CULTURED; CHOLESTANOL; ENDOTHELIAL CELLS; HUMANS; MACROPHAGES; MOLECULAR STRUCTURE; NEUROGLIA; NEURONS; SWINE; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 34248210553     PISSN: 00222275     EISSN: 15397262     Source Type: Journal    
DOI: 10.1194/jlr.M700027-JLR200     Document Type: Article

References (30)

1. Björkhem, I., K. Muri-Boberg, and E. Leitersdorf. 2001. Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol. In The Metabolic Bases of Inherited Disease. C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, editors. McGraw Hill Publishing Co., New York. 2961-2988.
2. Skrede, S., I. Björkhem, M. S. Buchmann, G. Hopen, and S. Fausa. 1985. A novel pathway for biosynthesis of cholestanol with 7α- hydroxysteroids as intermediates, and its importance for the accumulation of cholestanol in CTX. J. Clin. Invest. 75: 448-455.
3. Björkhem, I., S. Skrede, M. S. Buchmann, C. East, and S. Grundy. 1987. Accumulation of 7α-hydroxy-4-cholesten-3-one and cholesta-4,6-dien-3-one in patients with CTX: effect of treatment with chenodeoxycholic acid. Hepatology. 7: 266-271.
4. Koopman, B. J., J. C. Mole, and B. G. Wolthers. 1987. Determination of some hydroxysterols in human serum samples. J. Chromatogr. 416: 1-13.
5. Buchmann, M. S., and O. P. Clausen. 1986. Effects of cholestanol feeding and cholestyramine treatment on the tissue sterols in the rabbit. Lipids. 21: 738-743.
6. Byun, D. S., T. Kasama, T. Shimizu, H. Yorfuji, and Y. Seyama. 1988. Effect of cholestanol feeding on sterol concentrations in the serum, liver and cerebellum in mice. J. Biochem. (Tokyo). 103: 375-379.
7. Meaney, S., K. Bodin, U. Diczfalusy, and I. Björkhem. 2002. On the rate of translocation in vitro and kinetics in vivo of the major oxysterols in human circulation: critical importance of the position of the oxygen function. J. Lipid Res. 43: 2130-2135.
8. Skrede, S., M. S. Buchmann, and I. Björkhem. 1988. Hepatic 7a-dehydroxylation of bile acid intermediates and its significance for the pathogenesis of cerebrotendinous xanthomatosis. J. Lipid Res. 29: 157-164.
9. Björkhem, I., and J. Gustafsson. 1971. On the conversion of cholestanol into allocholic acid in rat liver. Eur. J. Biochem. 18: 207-213.
10. Björkhem, I. 1969. On the mechanism of the enzymatic conversion of cholest-5-ene-3β,7α-diol into 7α-hydroxycholest-4-en-3-one. Eur. J. Biochem. 8: 337-344.
11. Norlin, M., A. Toll, I. Björkhem, and K. Wikvall. 2000. 24-Hydroxycholesterol is a substrate for hepatic cholesterol 7α-hydroxylase. J. Lipid Res. 41: 1629-1639.
12. Balazs, Z., U. Panzenboeck, A. Hammer, A. Sovic, O. Quehenberger, E. Malle, and W. Sattler. 2004. Uptake and transport of high-density lipoprotein and HDL-associated alpha tocopherol by an in vitro blood-brain barrier model. J. Neurochem. 89: 939-950.
13. Panzenboeck, U., Z. Balazs, A. Sovic, A. Hrzenjak, S. Levak-Frank, A. Wintersperger, E. Malle, and W. Sattler. 2002. ABCA1 and scavenger receptor class B, type I, are modulators of reverse sterol transport at an in vitro blood-brain barrier constituted of porcine brain capillary endothelial cells. J. Biol. Chem. 277: 42781-42789.
14. Salen, G. 1971. Cholestanol deposition in cerebrotendinous xanthomatosis. A possible mechanism. Ann. Intern. Med. 75: 843-851.
15. Björkhem, I., and S. Meaney. 2004. Brain cholesterol - long secret life behind a barrier. Arterioscler. Thromb. Vasc. Biol. 24: 806-815.
16. Heverin, M., S. Meaney, D. Lutjohann, U. Diczfalusy, J. Wahren, and I. Björkhem. 2005. Crossing the barrier: net flux of 27-hydroxycholesterol into the human brain. J. Lipid Res. 46: 1047-1052.
17. Buchmann, M. S., I. Björkhem, and S. Skrede. 1987. Conversion of the cholestanol precursor cholesta-4,6-dien-3-one in different tissues in the rat. Biochim. Biophys. Acta. 922: 111-117.
18. Salen, G., S. Tint, and S. Shefer. 1986. Increased cerebrospinal fluid cholestanol and apolipoprotein B concentrations in CTX. In Abstracts, IX International Bile Acid Meeting, Basel, Switzerland. MTP Press Ltd., Lancaster. 59.
19. Bhattacharyya, A. K., D. S. Lin, and W. E. Connor. 2007. Cholestanol metabolism in patients with cerebrotendinous xanthomatosis: absorption, turnover, tissue deposition and clues to pathological consequences. J. Lipid Res. 48: 185-192.
20. de Jong, J. G. Y., C. M. van Gent, and J. W. Delleman. 1977. Cerebrotendinous cholestanolosis in relation to other cerebral xanthomatoses. Clin. Neurol. Neurosurg. 79: 253-272.
21. Philippart, M., and L. Bogaert. 1969. Cholestanolosis. Arch. Neurol. 21: 603-610.
22. Truswell, A. S., and P. J. Pfister. 1972. Cerebrotendinous xanthomatosis. BMJ. 1: 353-354.
23. Björkhem, I., and U. Diczfalusy. 2002. Oxysterols. Friends, foes or just fellow passengers? Arterioscler. Thromb. Vasc. Biol. 22: 734-742.
24. vonBahr, S., T. Movin, N. Papadogiannakis, I. Pikuleva, P. Rönnow, U. Diczfalusy, and I. Björkhem. 2002. Mechanism of accumulation of cholesterol and cholestanol in tendons and the role of sterol 27-hydroxylase (CYP27A1). Arterioscler. Thromb. Vasc. Biol. 22: 1129-1135.
25. Babiker, A., O. Andersson, E. Lund, R. J. Xiu, S. Deeb, A. Reshef, E. Leitersdorf, U. Diczfalusy, and I. Björkhem. 1997. Elimination of cholesterol in macrophages and endothelial cells by the sterol 27-hydroxylase mechanism. J. Biol. Chem. 272: 26253-26261.
26. Björkhem, I., M. S. Buchmann, and S. Skrede. 1985. On the structural specificity in the regulation of hydroxyglutaryl-CoA reductase and the cholesterol-7α-hydroxylase in rats. Effects of cholestanol feeding. Biochim. Biophys. Acta. 835: 18-22.
27. Lund, E., and I. Björkhem. 1994. Downregulation of hepatic HMG CoA reductase in mice by dietary cholesterol: importance of the delta-5-double bond and evidence that oxidation at C-3, C-5, C-6, or C-7 is not involved. Biochemistry. 33: 291-297.
28. Shefer, S., S. Hauser, G. Salen, F. G. Zaki, J. Bullock, E. Salgado, and J. Shevitz. 1994. Comparative effects of cholestanol and cholesterol on hepatic sterol and bile acid metabolism in the rat. J. Clin. Invest. 74: 1773-1781.
29. Salen, G., Y. W. Meriwether, and G. Nicolav. 1975. Chenodeoxycholic acid inhibits increased cholesterol and cholestanol synthesis in patients with CTX. Biochem Med. 14: 57-74.
30. Berginer, V. M., G. Salen, and S. Shefer. 1984. Long-term treatment of CTX with chenodeoxycholic acid. N. Engl. J. Med. 311: 1649-1652.