OCTN3 is a mammalian peroxisomal membrane carnitine transporter

Biochemical and Biophysical Research Communications

Volumn 338, Issue 4, 2005, Pages 1966-1972

  Lamhonwah, Anne Marie ^a,b   Ackerley, Cameron A ^a   Tilups, Aina ^a   Edwards, Vernon D ^a   Wanders, Ronald J ^c   Tein, Ingrid ^a,b  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Carnitine transporter; Organic cation; Peroxisomal carnitine transporter OCTN3; PEX 1 and PEX 19 deficient fibroblasts

Indexed keywords

AMPHOLYTE; CARNITINE; CATALASE; ENZYME ANTIBODY; MEMBRANE PROTEIN; OCTN 3 PROTEIN; ORGANIC CATION TRANSPORTER; PROTEIN ANTIBODY; UNCLASSIFIED DRUG;

ANIMAL CELL; ANTIBODY SPECIFICITY; ARTICLE; BIOGENESIS; CELL CULTURE; CONTROLLED STUDY; FATTY ACID OXIDATION; HUMAN; HUMAN CELL; IMMUNOGOLD LABELING; IMMUNOHISTOCHEMISTRY; LIPID METABOLISM; LIVER; MOUSE; NONHUMAN; PEROXISOME; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN TRANSPORT; SKIN FIBROBLAST; TRANSMISSION ELECTRON MICROSCOPY; WESTERN BLOTTING; ZELLWEGER SYNDROME;

ANIMALS; CARNITINE; HUMANS; INTRACELLULAR MEMBRANES; LIVER; MALE; MEMBRANE PROTEINS; MICE; ORGANIC CATION TRANSPORT PROTEINS; PEROXISOMES; RABBITS;

ANIMALIA; MAMMALIA; MURINAE;

EID: 27844515602     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2005.10.170     Document Type: Article

References (53)

1. J. Bremer Carnitine- metabolism and functions Physiol. Rev. 63 1983 1420 1480
2. X. Wu, P.D. Prasad, F.H. Leibach, and V. Ganapathy cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family Biochem. Biophys. Res. Commun. 246 1998 589 595
3. I. Tamai, R. Ohashi, J. Nezu, H. Yabuuchi, A. Oku, M. Shimane, Y. Sai, and A. Tsuji Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2 J. Biol. Chem. 273 1998 20378 20382
4. A.M. Lamhonwah, S.E. Olpin, R.J. Pollitt, C. Vianey-Saban, P. Divry, N. Guffon, G.T.N. Besley, R. Onizuka, L.J. De Meirleir, L. Cvitanovic-Sojat, I. Baric, C. Dionisi-Vici, K. Fumic, M. Maradin, and I. Tein Novel OCTN2 mutations: no genotype-phenotype correlations. Early carnitine therapy prevents cardiomyopathy Am. J. Med. Genet. 111 2002 271 284
5. C.A. Stanley, S. DeLeeuw, P.M. Coates, C. Vianey-Liaud, P. Divry, J.P. Bonnefont, J.M. Saudubray, M. Haymond, F.K. Trefz, G.N. Breningstall, R.S. Wappner, D.J. Byrd, C. Sansaricq, I. Tein, W. Grover, D. Valle, S.L. Rutledge, and W.R. Treem Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake Ann. Neurol. 30 1991 709 716
6. I. Tein, D.C. De Vivo, F. Bierman, P. Pulver, L.J. De Meirleir, L. Cvitanovic-Sojat, R.A. Pagon, E. Bertini, C. Dionisi-Vici, S. Servidei, and S. DiMauro Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy Pediatr. Res. 28 1990 247 255
7. J. Bahl, T. Navin, A. Manian, and R. Bressler Carnitine transport in isolated adult rat heart myocytes and the effect of 7,8,-diOH chlorpromazine Circ. Res. 48 1981 378 385
8. C.J. Rebouche, and A.G. Engel Carnitine transport in cultured muscle cells and skin fibroblasts from patients with primary systemic carnitine deficiency In Vitro 18 1982 495 500
9. R. Pons, R. Carrozzo, I. Tein, W.F. Walker, L.J. Addonizio, W. Rhead, A.F. Miranda, S. DiMauro, and D.C. De Vivo Deficient muscle carnitine transport in primary carnitine deficiency Pediatr. Res. 42 1997 583 587
10. M.J. James, D.E. Brooks, and A.M. Snoswell Kinetics of carnitine uptake by rat epididymal cells. Androgen-dependence and lack of stereospecificity FEBS Lett. 126 1981 53 56
11. J.W. Hamilton, B.U. Li, A.L. Shug, and W.A. Olsen Studies of l-carnitine absorption in man Gastroenterology 84 1983 1180
12. L.L. Bieber Carnitine Ann. Rev. Biochem. 57 1988 261 283
13. P.J. Huth, and A. Shug Properties of carnitine transport in rat kidney cortex slices Biochim. Biophys. Acta 602 1980 621 634
14. R.D. Shaw, B.U. Li, J.W. Hamilton, A.L. Shug, and W.A. Olsen Carnitine transport in rat small intestine Am. J. Physiol. 245 1983 G376 G381
15. A. Martinuzzi, L. Vergani, M. Rosa, and C. Angelini l-Carnitine uptake in differentiating human cultured muscle Biochim. Biophys. Acta 1095 1991 217 222
16. I. Tamai, R. Ohashi, J.I. Nezu, Y. Sai, D. Kobayashi, A. Oku, M. Shimane, and A. Tsuji Molecular and functional characterization of organic cation/carnitine transporter family in mice J. Biol. Chem. 275 2000 40064 40072
17. J.B. Pritchard, and D.S. Miller Mechanisms mediating renal secretion of organic anions and cations Physiol. Rev. 73 1983 765 796
18. H. Yabuuchi, I. Tamai, J. Nezu, K. Sakamoto, A. Oku, M. Shimane, Y. Sai, and A. Tsuji Novel membrane transporter OCTN1 mediates multispecific, bidirectional, and pH-dependent transport of organic cations J. Pharm. Exp. Ther. 289 1999 768 773
19. X. Wu, W. Huang, P.D. Prasad, P. Seth, D.P. Rajan, F.H. Leibach, J. Chen, S.I. Conway, and V. Ganapathy Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter J. Pharm. Exp. Ther. 290 1999 1482 1492
20. I. Tein, and Z.W. Xie The human plasmalemmal carnitine transporter defect is expressed in cultured lymphoblasts: a new, rapid non-invasive diagnostic method for diagnosis Clin. Chim. Acta 252 1996 201 204
21. A.M. Lamhonwah, and I. Tein GFP-human high-affinity carnitine transporter OCTN2 protein: subcellular localization and functional restoration of carnitine uptake in mutant cell lines with carnitine transporter defect Biochem. Biophys. Res. Commun. 264 1999 909 914
22. A.M. Lamhonwah, J. Skaug, S.W. Scherer, and I. Tein A third human carnitine/organic cation transporter (OCTN3) as a candidate for the 5q31 Crohn's disease locus (IBD5) Biochem. Biophys. Res. Commun. 301 2003 98 101
23. R.R. Ramsay The carnitine acyltransferases: modulators of acyl-CoA-dependent reactions Biochem. Soc. Trans. 28 2000 182 186
24. M.S. Murthy, and S.V. Pande Malonyl-CoA binding site and the overt carnitine palmitoyl-transferase activity reside on the opposite sides of the outer mitochondrial membrane Proc. Natl. Acad. Sci. USA 84 1987 378 382
25. S.V. Pande, and R. Parvin Carnitine-acylcarnitine translocase catalyzes an equilibrating unidirectional transport as well J. Biol. Chem. 255 1980 2994 3001
26. C.A. Stanley New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency Adv. Pediatr. 34 1987 59 88
27. J.A. Idell-Wenger, L.W. Grotyohann, and J.R. Neely Coenzyme A and carnitine distribution in normal and ischemic hearts J. Biol. Chem. 253 1978 4310 4318
28. R.J. Wanders, P. Vreken, S. Ferdinandusse, G.A. Jansen, H.R. Waterham, C.W. van Roermund, and E.G. VanGrunsven Peroxisomal fatty acid alpha- and beta-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases Biochem. Soc. Trans. 29 2001 250 267
29. B.S. Jakobs, and R.J. Wanders Fatty acid beta-oxidation in peroxisomes and mitochondria: the first, unequivocal evidence for the involvement of carnitine in shuttling propionyl-CoA from peroxisomes to mitochondria Biochem. Biophys. Res. Commun. 213 1995 1035 1041
30. J.P. Derrick, and R.R. Ramsay l-Carnitine acyltransferase in intact peroxisomes is inhibited by malonyl-CoA Biochem. J. 262 1989 801 806
31. F. Fraser, and V.A. Zammit Submitochondrial and subcellular distributions of the carnitine-acylcarnitine carrier FEBS Lett. 445 1999 41 44
32. C.W. van Roermund, Y. Elgersma, N. Singh, R.J. Wanders, and H.F. Tabak The membrane of peroxisomes in Saccharomyces cerevisiae is impermeable to NAD(H) and acetyl-CoA under in vivo conditions EMBO J. 14 1995 3480 3486
33. K.F. Buechler, and J.M. Lowenstein The involvement of carnitine intermediates in peroxisomal fatty acid oxidation: a study with 2-bromofatty acids Arch. Biochem. Biophys. 281 1990 233 238
34. C. De Duve, and P. Baudhuin Peroxisomes (microbodies and related particles) Physiol. Rev. 46 1966 323 357
35. P.P. Van Veldhoven, W.W. Just, and G.P. Mannaerts Permeability of the peroxisomal membrane to cofactors of β-oxidation. Evidence for the presence of a pore-forming protein J. Biol. Chem. 262 1987 4310 4318
36. T.B. Dansen, K.W. Wirtz, R.J. Wanders, and E.H. Pap Peroxisomes in human fibroblasts have a basic pH Nat. Cell Biol. 2 2000 51 53
37. R. Ramsay The role of the carnitine system in peroxisomal fatty acid oxidation Am. J. Med. Sci. 318 1999 28 35
38. R.J. Wanders, and J.M. Tager Lipid metabolism in peroxisomes in relation to human disease Mol. Aspects Med. 19 1998 69 154
39. S. Reumann, E. Maier, H.W. Heldt, and R. Benz Permeability properties of the porin of spinach leaf peroxisomes Eur. J. Biochem. 251 1998 359 366
40. N. Preuss, U. Brosius, M. Biermanns, A.C. Muntau, E. Conzelmann, and J. Gartner PEX 1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease Pediatr. Res. 51 2002 706 714
41. K. Gotte, W. Girzalsky, M. Linkert, E. Baumgart, S. Kammerer, W.H. Kunau, and R. Erdmann Pex19p, a farnesylated protein essential for peroxisome biogenesis Mol. Cell. Biol. 18 1998 616 628
42. B.T. Poll-The, J. Gootjes, M. Duran, J.B. De Klerk, L.J. Wenniger-Prick, R.J. Admiraal, H.R. Waterham, R.J. Wanders, and P.G. Barth Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients Am. J. Med. Genet. A 126 2004 333 338
43. H. Portsteffen, A. Beyer, E. Becker, C. Epplen, A. Pawlak, W.H. Kunau, and G. Dodt Human PEX 1 is mutated in complementation group 1 of the peroxisome biogenesis disorders Nat. Genet. 17 1997 449 452
44. B.E. Reuber, E. Germain-Lee, C.S. Collins, J.C. Morrell, R. Ameritunga, H.W. Moser, D. Valle, and S.J. Gould Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders Nat. Genet. 17 1997 445 448
45. C.S. Collins, J.E. Kalish, J.C. Morrell, J.M. McCaffery, and S.J. Gould The peroxisome biogenesis factors pex4p, pex22p, pex1p, and pex6p act in the terminal steps of peroxisomal matrix protein import Mol. Cell. Biol. 20 2000 7516 7526
46. Y. Matsuzono, N. Kinoshita, S. Tamura, N. Shimozawa, M. Hamasaki, K. Ghaedi, R.J. Wanders, Y. Suzuki, N. Kondo, and Y. Fujiki Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly Proc. Natl. Acad. Sci. USA 96 1999 2116 2121
47. E.H. Hettema, W. Girzalsky, M. van Den Berg, R. Erdmann, and B. Distel Saccharomyces cerevisiae pex3p and pex19p are required for proper localization and stability of peroxisomal membrane proteins EMBO J. 19 2000 223 233
48. D. Hoepfner, D. Schildknegt, I. Braakman, P. Philippsen, and H.F. Tabak Contribution of the endoplasmic reticulum to peroxisome formation Cell 122 2005 85 95
49. T. Sekine, H. Kusuhara, N. Utsunomiya-Tate, M. Tsuda, Y. Sugiyama, Y. Kanai, and H. Endou Molecular cloning and characterization of high-affinity carnitine transporter from rat intestine Biochem. Biophys. Res. Commun. 251 1998 586 591
50. P. Hahn, and M. Taller Ketone formation in the intestinal mucosa of infant rats Life Sci. 41 1987 1525 1528
51. Y.I. Kim Short-chain fatty acids in ulcerative colitis Nutr. Rev. 56 1998 17 24
52. W.E. Roediger What sequence of pathogenetic events leads to acute ulcerative colitis? Dis. Colon Rectum 31 1988 482 487
53. J.D. Rioux, M.J. Daly, M.S. Silverberg, K. Lindblad, H. Steinhart, Z. Cohen, T. Delmonte, K. Kocher, K. Miller, S. Guschwan, E.J. Kulbokas, S. O'Leary, E. Winchester, K. Dewar, T. Green, V. Stone, C. Chow, A. Cohen, D. Langelier, G. Lapointe, D. Gaudet, J. Faith, N. Branco, S.B. Bull, R.S. McLeod, A.M. Griffiths, A. Bitton, G.R. Greenberg, E.S. Lander, K.A. Siminovitch, and T.J. Hudson Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease Nat. Genet. 29 2001 223 228