Transport of lipids from Golgi to plasma membrane is defective in tangier disease patients and Abc1-deficient mice

Nature Genetics

Volumn 24, Issue 2, 2000, Pages 192-196

  Orsó, Evelyn ^a   Broccardo, Cyril ^b   Kaminski, Wolfgang E ^a   Böttcher, Alfred ^a   Liebisch, Gerhard ^a   Drobnik, Wolfgang ^a   Götz, Alexandra ^a   Chambenoit, Olivier ^b   Diederich, Wendy ^a   Langmann, Thomas ^a   Spruss, Thilo ^a   Luciani, Marie Francoise ^b   Rothe, Gregor ^a   Lackner, Karl J ^a   Chimini, Giovanna ^b   Schmitz, Gerd ^a  

^a UNIVERSITY OF REGENSBURG   (Germany)

^b CENTRE D IMMUNOLOGIE DE MARSEILLE LUMINY   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; CHOLESTEROL ESTER; HIGH DENSITY LIPOPROTEIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CELL MEMBRANE; CONTROLLED STUDY; GENE INACTIVATION; GENE MUTATION; GOLGI COMPLEX; HUMAN; INTRACELLULAR TRANSPORT; LIPID TRANSPORT; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFECT; TANGIER DISEASE;

ANIMALS; APOPTOSIS; ATP-BINDING CASSETTE TRANSPORTERS; BLOOD PLATELETS; CELL MEMBRANE; CHOLESTEROL; CHOLESTEROL, HDL; FIBROBLASTS; GENOTYPE; GLYCOPROTEINS; GOLGI APPARATUS; HUMANS; INTESTINAL MUCOSA; INTESTINE, SMALL; LIPID METABOLISM; MICE; MICE, KNOCKOUT; MOLECULAR SEQUENCE DATA; PHOSPHOLIPIDS; TANGIER DISEASE; TRIGLYCERIDES;

ANIMALIA;

EID: 0033962086     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/72869     Document Type: Article

References (30)

1. Bodzioch, M. et al. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nature Genet. 22, 347-351 (1999).
2. Brooks-Wilson, A. et al. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nature Genet. 22, 336-345 (1999).
3. Rust, S. et al. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nature Genet. 22, 352-355 (1999).
4. Assmann, G., Schmitz, G & Brewer, H.B. Jr Familial high density lipoprotein deficiency: Tangier disease. in The Metabolic Basis of Inherited Disease (eds Scriver C.R., Beaudet, A.L., Sly, W.S. & Valle, D.) 1267-1282 (McGraw-Hill, New York, 1989).
5. Bojanovski, D. et al. In vivo metabolism of proapolipoprotein A-I in Tangier disease. J. Clin. Invest. 80, 1742-1747 (1987).
6. Schmitz, G., Robenek, H., Lohmann, U. & Assmann, G. Interaction of high density lipoproteins with cholesteryl ester laden macrophages; biochemical and morphological characterization of cell surface binding, endocytosis and resecretion of high density lipoproteins by macrophages. EMBO J. 4, 613-622 (1985).
7. Robenek, H. & Schmitz, G. Abnormal processing of Golgi elements and lysosomes in Tangier disease. Arterioscler. Thromb. 11, 1007-1020 (1991).
8. Schmitz, G., Assmann, G., Robenek, H. & Brennhausen, B. Tangier disease: A disorder of intracellular membrane traffic. Proc. Natl Acad. Sci. USA 82, 6305-6309 (1985).
9. Regler, G., Trümbach, B., Klima, B., Lackner, K.J. & Schmitz, G. High density lipoprotein-mediated efflux of newly synthesized cholesterol is impaired in fibroblasts from Tangier patients while membrane description and efflux of lysosomal cholesterol are normal. Arterioscler. Thromb. Vasc. Biol. 15, 683-690 (1995).
10. Francis, G.A., Knopp, R.H. & Oram, J.F. Defective removal of cellular cholesterol and phospholipids by apolipoprotein A-I in Tangier disease. J. Clin. Invest. 96, 78-87 (1995).
11. Schmitz, G., Fischer, H., Beuck, M., Hoecker, K.-P. & Robenek, H. Dysregulation of lipid metabolism in Tangier-monocyte derived macrophages. Arteriosclerosis 10, 1010-1019 (1990).
12. Drobnik, W. et al. Growth and cell cycle abnormalities of fibroblasts from Tangier disease patients. Arterioscler. Thromb. Vasc. Biol. 19, 28-38 (1999).
13. Langmann, T. et al. Molecular cloning of the human ATP-binding cassette transporter 1 (hABC1): evidence for sterol-dependent regulation in macrophages. Biochem. Biophys. Res. Comm. 257, 29-33 (1999).
14. Bhakdi, S. et al. On the pathogenesis of atherosclerosis: enzymatic transformation of human low density lipoprotein to an atherogenic moiety. J. Exp. Med. 182, 1959-1971 (1995).
15. Schmitz, G., Götz, A., Orsó, E. & Rothe, G. Fluorescence recovery after photobleaching measured by confocal microscopy as a tool for the analysis of vesicular lipid transport and plasma membrane motility. in Optical Investigations of Cells In Vitro and In Vivo (eds Farkas, D.L., Leif, R.C. & Tromberg, B.J.) Proceedings of SPIE 3260, 127-135 (1998).
16. Conrad, P.A., Smart, E.J., Ying, Y.S., Anderson, R.G. & Bloom, G.S. Caveolin cycles between plasma membrane caveolae and the Golgi complex by microtubule-dependent and microtubule-independent steps. J. Cell Biol. 131, 1421-1433 (1995).
17. Fielding, P.E. & Fielding, C.J. Plasma membrane caveolae mediate the efflux of cellular free cholesterol. Biochemistry 34, 14288-14292 (1995).
18. Liu, P.L., Li, W.-P., Machleidt, T. & Anderson, R.G.W. Identification of caveolin-1 in lipoprotein particles secreted by exocrine cells. Nature Cell Biol. 1, 369-375 (1999).
19. Fielding, C.J., Bist, A. & Fielding, P.E. Caveolin mRNA levels are up-regulated by free cholesterol and down-regulated by oxysterols in fibroblast monolayers. Proc. Natl Acad. Sci. USA 94, 3753-3758 (1997).
20. van Meer, G. & Simons, K. Lipid polarity and sorting in epithelial cells. J. Cell Biochem. 36, 51-58 (1988).
21. Kurzchalia, T.V. & Parton, R.G. Membrane microdomains and caveolae. Curr. Opin. Cell Biol. 11, 424-431 (1999).
22. Schmitz, G., Möllers, C. & Richter, V. Analytical capillary isotachophoresis of human serum lipoproteins. Electrophoresis 18, 1807-1813 (1997).
23. Huber, A.M., Davidson, K.W., O'Brien-Morse, M.E. & Sadowski, J.A. Gender differences in hepatic phylloquinone and menaquinones in the vitamin K-deficient and -supplemented rat. Biochim. Biophys. Acta 1426, 43-52 (1999).
24. Schmitz, G., Assmann, G. & Bowyer, D.E. A quantitative densitometric method for the rapid separation and quantitation of the major tissue and lipoprotein lipids by high-performance thin-layer chromatography. I. Sample preparation, chromatography, and densitometry. J. Chromatogr. 307, 65-79 (1984).
25. Li, N., Goodall, A.H. & Hjemdahl, P. A sensitive flow cytometric assay for circulating platelet-leucocyte aggregates. Br. J. Haematol. 99, 808-816 (1997).
26. Stöhr, J., Schindler, G., Rothe, G. & Schmitz, G. Enhanced upregulation of the Fcγ receptor IIIa (CD16a) during in vitro differentiation of apoE4/4 monocytes. Arterioscler. Thromb. Vasc. Biol. 18, 1424-1432 (1998).
27. Glauert, A.M. Fixation, dehydration and embedding of biological specimens. in Practical Methods in Electron Microscopy (ed. Glauert, A.M.) (North-Holland Publishing Company, Amsterdam, 1975).
28. Williams, M.A. Quantitative methods in biology. in Practical Methods in Electron Microscopy (ed. Glauert, A.M.) (North-Holland Publishing Company, Amsterdam, 1977).
29. Gingras, D., Boivin, D. & Béliveau, R. Subcellular distribution and guanine nucleotide dependency of COOH-terminal methylation in kidney cortex. Am. J. Physiol. 34, F316-F322 (1993).
30. Martin, O.C., Comly, M.E., Blanchette-Mackie, E.J., Pentchev, P.G. & Pagano, R.E. Cholesterol deprivation affects the fluorescence properties of a ceramide analog at the Golgi apparatus of living cells. Proc. Natl Acad. Sci. USA 90, 2661-2665 (1993).