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

Nature Genetics - Tập 24 Số 2 - Trang 192-196 - 2000
Evelyn Orsó1, Cyril Broccardo2, Wolfgang E. Kaminski1, Alfred Böttcher1, Gerhard Liebisch1, Wolfgang Drobnik1, Alexandra Götz1, Olivier Chambenoit2, Wendy Diederich1, Thomas Langmann1, Thilo Spruß3, Marie‐Françoise Luciani2, Gregor Rothe1, Karl J. Lackner1, Giovanna Chimini2, Gerd Schmitz1
1Institute for Clinical Chemistry and Laboratory Medicine, University of Regensburg, Regensburg, Germany
2Centre d'Immunologie, INSERM-CNRS de Marseille-Luminy, Parc Scientific de Luminy, Marseille, France
3Laboratory Animal Facility, University of Regensburg , Regensburg, Germany

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Bodzioch, M. et al. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nature Genet. 22, 347 –351 (1999).

Brooks-Wilson, A. et al. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nature Genet. 22, 336–345 (1999).

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).

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).

Bojanovski, D. et al. In vivo metabolism of proapolipoprotein A-I in Tangier disease . J. Clin. Invest. 80, 1742– 1747 (1987).

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).

Robenek, H. & Schmitz, G. Abnormal processing of Golgi elements and lysosomes in Tangier disease. Arterioscler. Thromb. 11, 1007–1020 (1991).

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).

Rogler, 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).

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).

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).

Drobnik, W. et al. Growth and cell cycle abnormalities of fibroblasts from Tangier disease patients. Arterioscler. Thromb. Vasc. Biol. 19, 28–38 (1999).

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).

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).

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).

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).

Fielding, P.E. & Fielding, C.J. Plasma membrane caveolae mediate the efflux of cellular free cholesterol. Biochemistry 34, 14288–14292 ( 1995).

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).

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).

van Meer, G. & Simons, K. Lipid polarity and sorting in epithelial cells. J. Cell Biochem. 36, 51– 58 (1988).

Kurzchalia, T.V. & Parton, R.G. Membrane microdomains and caveolae. Curr. Opin. Cell Biol. 11, 424–431 (1999).

Schmitz, G., Möllers, C. & Richter, V. Analytical capillary isotachophoresis of human serum lipoproteins. Electrophoresis 18, 1807– 1813 (1997).

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).

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).

Li, N., Goodall, A.H. & Hjemdahl, P. A sensitive flow cytometric assay for circulating platelet-leucocyte aggregates. Br. J. Haematol. 99, 808– 816 (1997).

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).

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).

Williams, M.A. Quantitative methods in biology. in Practical Methods in Electron Microscopy (ed. Glauert, A.M.) (North-Holland Publishing Company, Amsterdam, 1977).

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).

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).