Structure and Function of α-Tocopherol Transfer Protein: Implications for Vitamin E Metabolism and AVED

Vitamins and Hormones

Volumn 76, Issue , 2007, Pages 23-43

  Christopher Min, K ^a  

^a Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 34347368866     PISSN: 00836729     EISSN: None     Source Type: Book Series    
DOI: 10.1016/S0083-6729(07)76002-8     Document Type: Review

References (50)

1. Arita M., Sato Y., Miyata A., Tanabe T., Takahashi E., Kayden H.J., Arai H., and Inoue K. Human α-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization. Biochem. J. 306 Pt. 2 (1995) 437-443
2. Arita M., Nomura K., Arai H., and Inoue K. α-Tocopherol transfer protein stimulates the secretion of α-tocopherol from a cultured liver cell line through a brefeldin A-insensitive pathway. Proc. Natl. Acad. Sci. USA 94 23 (1997) 12437-12441
3. Bateman A., Birney E., Cerruti L., Durbin R., Etwiller L., Eddy S.R., Griffiths-Jones S., Howe K.L., Marshall M., and Sonnhammer E.L. The Pfam protein families database. Nucleic Acids Res. 30 1 (2002) 276-280
4. Ben Hamida C., Doerfligner N., Belal S., Linder L., Reutenauer C., Dib C., Gyapay A., Vignal D., Le Paslier D., Cohen M., Pandolfo V., Mokini G., et al. Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. Nat. Genet. 5 2 (1993) 195-200
5. Ben Hamida M., Belal S., Sirugo G., Ben Hamida C., Panayides K., Ionannou P., Beckmann J., Mandel J.L., Hentati F., Koenig M., et al. Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families. Neurology 43 11 (1993) 2179-2183
6. Bomar J.M., Benke P.J., Slattery E.L., Puttagunta R., Taylor L.P., Seong E., Nystuen A., Chen W., Albin R.L., Patel P.D., Kittles R.A., Sheffield V.C., et al. Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. Nat. Genet. 35 3 (2003) 264-269
7. Brigelius-Flohe R., and Traber M.G. Vitamin E: Function and metabolism. FASEB J. 13 10 (1999) 1145-1155
8. Burck U., Goebel H.H., Kuhlendahl H.D., Meier C., and Goebel K.M. Neuromyopathy and vitamin E deficiency in man. Neuropediatrics 12 3 (1981) 267-278
9. Catignani G.L. An α-tocopherol binding protein in rat liver cytoplasm. Biochem. Biophys. Res. Commun. 67 1 (1975) 66-72
10. Catignani G.L., and Bieri J.G. Rat liver α-tocopherol binding protein. Biochim. Biophys. Acta 497 2 (1977) 349-357
11. Cavalier L., Ouahchi K., Kayden H.J., Di Donato S., Reutenauer L., Mandel J.L., and Koenig M. Ataxia with isolated vitamin E deficiency: Heterogeneity of mutations and phenotypic variability in a large number of families. Am. J. Hum. Genet. 62 2 (1998) 301-310
12. DeLano. The PyMOL Molecular Graphics System DeLano Scientific, San Carlos (2002)
13. Esnouf R.M. Further additions to MolScript version 1.4, including reading and contouring of electron-density maps. Acta Crystallogr. D Biol. Crystallogr. 55 Pt. 4 (1999) 938-940
14. Evans H.E., and Bishop K.S. On the existence of a hitherto unrecognized dietary factor essential for reproduction. Science 56 1458 (1922) 650-651
15. Fenn T.D., Ringe D., and Petsko G.A. POVScript+: A program for model and data visualization using persistence of vision ray-tracing. J. Appl. Crystallogr. 36 (2003) 944-947
16. Golovleva I., Bhattacharya S., Wu Z., Shaw N., Yang Y., Andrabi K., West K.A., Burstedt M.S., Forsman K., Holmgren G., Sandgren O., Noy N., et al. Disease-causing mutations in the cellular retinaldehyde binding protein tighten and abolish ligand interactions. J. Biol. Chem. 278 14 (2003) 12397-12402
17. Gotoda T., Arita M., Arai H., Inoue K., Yokota T., Fukuo Y., Yazaki Y., and Yamada N. Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the α-tocopherol-transfer protein. N. Engl. J. Med. 333 20 (1995) 1313-1318
18. Gouet P., Courcelle E., Stuart D.I., and Metoz F. ESPript: Analysis of multiple sequence alignments in PostScript. Bioinformatics 15 4 (1999) 305-308
19. Harding A.E., Matthews S., Jones S., Ellis C.J., Booth I.W., and Muller D.P. Spinocerebellar degeneration associated with a selective defect of vitamin E absorption. N. Engl. J. Med. 313 1 (1985) 32-35
20. Hentati A., Deng H.X., Hung W.Y., Nayer M., Ahmed M.S., He X., Tim R., Stumpf D.A., and Siddique T. Human α-tocopherol transfer protein: Gene structure and mutations in familial vitamin E deficiency. Ann. Neurol. 39 3 (1996) 295-300
21. Horiguchi M., Arita M., Kaempf-Rotzoll D.E., Tsujimoto M., Inoue K., and Arai H. pH-dependent translocation of α-tocopherol transfer protein (α-TTP) between hepatic cytosol and late endosomes. Genes Cells 8 10 (2003) 789-800
22. Hoshino M., Masuda N., Ito Y., Murata M., Goto J., Sakurai M., and Kanazawa I. Ataxia with isolated vitamin E deficiency: A Japanese family carrying a novel mutation in the α-tocopherol transfer protein gene. Ann. Neurol. 45 6 (1999) 809-812
23. Hosomi A., Goto K., Kondo H., Iwatsubo T., Yokota T., Ogawa M., Arita M., Aoki J., Arai H., and Inoue K. Localization of α-tocopherol transfer protein in rat brain. Neurosci. Lett. 256 3 (1998) 159-162
24. Krendel D.A., Gilchrist J.M., Johnson A.O., and Bossen E.H.. Isolated deficiency of vitamin E with progressive neurologic deterioration. Neurology 37 3 (1987) 538-540
25. Krugmann S., Anderson K.E., Ridley S.H., Risso N., McGregor A., Coadwell J., Davidson K., Eguinoa A., Ellson C.D., Lipp P., Manifava M., Ktistakis N., et al. Identification of ARAP3, a novel PI3K effector regulating both Arf and Rho GTPases, by selective capture on phosphoinositide affinity matrices. Mol. Cell 9 1 (2002) 95-108
26. Laplante P., Vanasse M., Michaud J., Geoffroy G., and Brochu P. A progressive neurological syndrome associated with an isolated vitamin E deficiency. Can. J. Neurol. Sci. 11 4 Suppl. (1984) 561-564
27. Leonard S.W., Terasawa Y., Farese Jr. R.V., and Traber M.G. Incorporation of deuterated RRR- or all-rac-α-tocopherol in plasma and tissues of α-tocopherol transfer protein-null mice. Am. J. Clin. Nutr. 75 3 (2002) 555-560
28. Maw M.A., Kennedy B., Knight A., Bridges R., Roth K.E., Mani E.J., Mukkadan J.K., Nancarrow D., Crabb J.W., and Denton M.J. Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. Nat. Genet. 17 2 (1997) 198-200
29. Meier R., Tomizaki T., Schulze-Briese C., Baumann U., and Stocker A. The molecular basis of vitamin E retention: Structure of human α-tocopherol transfer protein. J. Mol. Biol. 331 3 (2003) 725-734
30. Min K.C., Kovall R.A., and Hendrickson W.A. Crystal structure of human α-tocopherol transfer protein bound to its ligand: Implications for ataxia with vitamin E deficiency. Proc. Natl. Acad. Sci. USA 100 25 (2003) 14713-14718
31. Morley S., Panagabko C., Shineman D., Mani B., Stocker A., Atkinson J., and Manor D. Molecular determinants of heritable vitamin E deficiency. Biochemistry 43 14 (2004) 4143-4149
32. Nicholls A., Sharp K.A., and Honig B. Protein folding and association: Insights from the interfacial and thermodynamic properties of hydrocarbons. Proteins 11 4 (1991) 281-296
33. Oram J.F., Vaughan A.M., and Stocker R. ATP-binding cassette transporter A1 mediates cellular secretion of α-tocopherol. J. Biol. Chem. 276 43 (2001) 39898-39902
34. Ouahchi K., Arita M., Kayden H., Hentati F., Ben Hamida M., Sokol R., Arai H., Inoue K., Mandel J.L., and Koenig M. Ataxia with isolated vitamin E deficiency is caused by mutations in the α-tocopherol transfer protein. Nat. Genet. 9 2 (1995) 141-145
35. Phillips S.E., Sha B., Topalof L., Xie Z., Alb J.G., Klenchin V.A., Swigart P., Cockcroft S., Martin T.F., Luo M., and Bankaitis V.A. Yeast Sec14p deficient in phosphatidylinositol transfer activity is functional in vivo. Mol. Cell 4 2 (1999) 187-197
36. Qian J., Morley S., Wilson K., Nava P., Atkinson J., and Manor D. Intracellular trafficking of vitamin E in hepatocytes: The role of tocopherol transfer protein. J. Lipid Res. 46 10 (2005) 2072-2082
37. Qian J., Atkinson J., and Manor D. Biochemical consequences of heritable mutations in the α-tocopherol transfer protein. Biochemistry 45 27 (2006) 8236-8242
38. Saari J.C., and Crabb J.W. Focus on molecules: Cellular retinaldehyde-binding protein (CRALBP). Exp. Eye Res. 81 3 (2005) 245-246
39. Sato Y., Arai H., Miyata A., Tokita S., Yamamoto K., Tanabe T., and Inoue K. Primary structure of α-tocopherol transfer protein from rat liver. Homology with cellular retinaldehyde-binding protein. J. Biol. Chem. 268 24 (1993) 17705-17710
40. Sha B., Phillips S.E., Bankaitis V.A., and Luo M. Crystal structure of the Saccharomyces cerevisiae phosphatidylinositol-transfer protein. Nature 391 6666 (1998) 506-510
41. Shimohata T., Date H., Ishiguro H., Suzuki T., Takano H., Tanaka H., Tsuji S., and Hirota K. Ataxia with isolated vitamin E deficiency and retinitis pigmentosa. Ann. Neurol. 43 2 (1998) 273
42. Sokol R.J., Kayden H.J., Bettis D.B., Traber M.G., Neville H., Ringel S., Wilson W.B., and Stumpf D.A. Isolated vitamin E deficiency in the absence of fat malabsorption-familial and sporadic cases: Characterization and investigation of causes. J. Lab. Clin. Med. 111 5 (1988) 548-559
43. Stocker A., and Baumann U. Supernatant protein factor in complex with RRR-α-tocopherylquinone: A link between oxidized vitamin E and cholesterol biosynthesis. J. Mol. Biol. 332 4 (2003) 759-765
44. Terasawa Y., Ladha Z., Leonard S.W., Morrow J.D., Newland D., Sanan D., Packer L., Traber M.G., and Farese Jr. R.V. Increased atherosclerosis in hyperlipidemic mice deficient in α-tocopherol transfer protein and vitamin E. Proc. Natl. Acad. Sci. USA 97 25 (2000) 13830-13834
45. Traber M.G., Sokol R.J., Burton G.W., Ingold K.U., Papas A.M., Huffaker J.E., and Kayden H.J. Impaired ability of patients with familial isolated vitamin E deficiency to incorporate α-tocopherol into lipoproteins secreted by the liver. J. Clin. Invest. 85 2 (1990) 397-407
46. Usuki F., and Maruyama K. Ataxia caused by mutations in the α-tocopherol transfer protein gene. J. Neurol. Neurosurg. Psychiatry 69 2 (2000) 254-256
47. Yokota T., Wada Y., Furukawa T., Tsukagoshi H., Uchihara T., and Watabiki S. Adult-onset spinocerebellar syndrome with idiopathic vitamin E deficiency. Ann. Neurol. 22 1 (1987) 84-87
48. Yokota T., Shiojiri T., Gotoda T., Arita M., Arai H., Ohga T., Kanda T., Suzuki J., Imai T., Matsumoto H., Harino S., Kiyosawa M., et al. Friedreich-like ataxia with retinitis pigmentosa caused by the His101Gln mutation of the α-tocopherol transfer protein gene. Ann. Neurol. 41 6 (1997) 826-832
49. Yokota T., Igarashi K., Uchihara T., Jishage K., Tomita H., Inaba A., Li Y., Arita M., Suzuki H., Mizusawa H., and Arai H. Delayed-onset ataxia in mice lacking α-tocopherol transfer protein: Model for neuronal degeneration caused by chronic oxidative stress. Proc. Natl. Acad. Sci. USA 98 26 (2001) 15185-15190
50. Zingg J.M., and Azzi A. Non-antioxidant activities of vitamin E. Curr. Med. Chem. 11 9 (2004) 1113-1133