Peroxisomal fatty acid oxidation disorders and 58 kDa sterol carrier protein X (SCPx): Activity measurements in liver and fibroblasts using a newly developed method

Journal of Lipid Research

Volumn 41, Issue 3, 2000, Pages 336-342

  Ferdinandusse, Sacha ^a   Denis, Simone ^a   Van Berkel, Emanuel ^a   Dacremont, Georges ^b   Wanders, Ronald J A ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b GHENT UNIVERSITY   (Belgium)

Author keywords

Peroxisomal oxidation disorders; SCPx knock out mouse; Zellweger syndrome

Indexed keywords

FATTY ACID; STEROL CARRIER PROTEIN;

ARTICLE; CONTROLLED STUDY; FATTY ACID OXIDATION; FIBROBLAST; HUMAN; HUMAN CELL; LIVER; METABOLIC DISORDER; PEROXISOME; PRIORITY JOURNAL; PROTEIN DETERMINATION; PROTEIN STABILITY; TECHNIQUE; ZELLWEGER SYNDROME;

ACETYL-COA C-ACETYLTRANSFERASE; ANIMALS; CARRIER PROTEINS; CELL LINE; FATTY ACIDS; FIBROBLASTS; HUMANS; LIVER; OXIDATION-REDUCTION; PEROXISOMES; RATS; SENSITIVITY AND SPECIFICITY; ZELLWEGER SYNDROME;

EID: 0034074438     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (45)

1. Osumi, T., T. Hashimoto, and N. Ui, 1980. Purification and properties of acyl-CoA oxidase from rat liver J. Biochem. 87: 1735-1746.
2. Osumi, T., and T. Hashimoto. 1979. Peroxisomal beta-oxidation system of rat liver. Copurification of cnoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase. Biochem. Biophys. Res. Commun. 89: 580-584.
3. Casteels, M., L. Schepers, P. P. van Veldhoven, H. J. Eyssen, and G. P. Mannaerts. 1990. Separate peroxisomal oxidases for fatty acyl-CoAs and trihydroxycoprostanoyl-CoA in human liver. J. Lipid Res. 31: 1865-1872.
4. Vanhove, G. F., P. P. van Veldhoven, M. Fransen, S. Denis, H. J. Eyssen, R. J. A. Wanders, and G. P. Mannaerts. 1993. The CoA esters of 2-methyl-branched chain fatty acids and of the bile acid intermediates di- and trihydroxycoprostanic acids are oxidized by one single peroxisomal branched chain aryl-CoA oxidase in human liver and kidney. J. Biol. Chem. 268: 10335-10344.
5. Dieuaide-Noubhani, M. D. Novikov, E. Baumgart, J. C. T. Vanhooren, M. Fransen, M. Goethals, J. Vandekerckhove, P. P. van Veldhoven, and G. P. Mannaerts. 1996. Further characterization of the peroxisomal 3-hydroxyacyl-CoA dehydrogenases from rat liver-relationship between the different dehydrogenenases and evidence that fatty acids and the C-27 bile acids di- and trihydroxycoprostanic acids are metabolized by separate multifunctional enzymes. Eur. J. Biochem. 240: 660-666.
6. Jiang, L. L., A. Kobayaski, H. Matsuura, H. Fukushima, and T. Hashimoto. 1996. Purification and properties of human D-3-hydroxyacyl-CoA dehydratase: medium-chain enoyl-CoA hydratase is D-3-hydroxyacl-CoA dehydratase. J. Biochem. 120: 624-632.
7. Jiang, L. L., T. Kurosawa, M. Sato, Y. Suzuki, and T. Hashimoto. 1997. Physiological role of D-3-hydroxyacyl-CoA dehydratase D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein. J. Biochem. 121: 506-513.
8. Qin, Y. M., M. H. Poutanen, H. M. Helander, A. P. Kvist, K. M. Siivari, W. Schmitz, E. Conzelmann, U. Hellman, and J. K. Hiltunen. 1997. Peroxisomal multifunctional enzyme of beta-oxidation metabolizing D-3-hydroxyacyl-CoA esters in rat liver - molecular cloning, expression and characterization. Biochem. J. 321: 21-28.
9. Miyazawa S., S. Furuta, T. Osumi, T. Hashimoto, and N. Ui, 1981. Properties of peroxisomal 3-ketoacyl-CoA thiolase from rat liver. J. Biochem. 90: 511-519.
10. Seedorf, U., and G. Assmann. 1991. Cloning, expression, and nucleotide sequence of rat liver sterol carrier protein-2 cDNAs. J Biol. Chem. 266: 630-636.
11. Antonenkov, V. D., P. P. van Veldhoven, E. Waelkens, and G. P. Mannaerts. 1997. Substrate specificities of 3-ketoacyl-CoA thiolase A and sterol carrier protein 2/3-oxoacyl-CoA thiolase purified from normal rat liver peroxisomes. J. Biol. Chem. 272: 26023-26031.
12. Wanders, R. J. A., S. Denis, F. Wouters, K. W. A. Wirtz, and U. Seedorf. 1997. Sterol carrier protein X (SCPx) is a peroxisomal branched-chain β-ketothiolase specifically reading with 3-oxopristanoyl-CoA: A new, unique role for SCPx in branched-chain fatty acid metabolism in peroxisomes. Biochem. Biophys. Res. Common. 236: 565-569.
13. Bun-Ya, M., M. Macbuchi, T. Kamiryo, T. Kurosawa, M. Sato, M. Tohma, L. L. Jiang, and T. Hashimoto. 1998. Thiolase involved in bile acid formation. J. Biochem. 123: 347-352.
14. Wanders, R. J. A., S. Denis, E. van Berkel, F. Wouters, K. W. A. Wirtz, and U. Seedorf. 1998. Identification of the newly discovered 58 kDa peroxisomal thiolase SCPx as the main thiolase involved in both pristanic acid and trihydroxycholestanoic acid oxidation: Implications for peroxisomal β-oxidation disorders. J. Inher. Metab. Dis. 21: 302-305.
15. He, Z., R. Yamamoto, E. E. Furth, L., J. Schantz, S. L. Naylor, H. George, J. T. Billheimer, and J. G. Strauss III. 1991. CDNAs encoding members of a family of proteins related to human sterol carrier protein 2 and assignment of the gene to human chromosome 1p21-pter. DNA Cell Biol. 10: 559-569.
16. Ohba, T., H. Rennert, S. M. Pfeifer, Z. He, R. Vamamoto, J. A. Holt, J. T. Billheimer, and J. F. Strauss III. 1994. The structure of the human sterol carrier protein X/sterol carrier protein 2 gene (SCP2). Genomics 24: 370-374.
17. Ossendorp, B. C., G. P. H. van Heusden, A. L. J. de Beer, K. Bos, G. L. Schouten, and K. W. A. Wirtz. 1991. Identification of the cDNA clone which encodes the 58-kDa protein containing the amino acid sequence of rat liver nonspecific lipid-transfer protein (sterol carrier protein-2) - Homology with rat peroxisomal and mitochondrial 3-oxoacyl-CoA thiolases. Eur. J. Biochem. 201: 233-239.
18. Wirtz, K. W. A. 1997. Phospholipid transfer proteins revisited. Biochem. J. 324: 353-360.
19. Seedorf, U., P. Brysch, T. Engel, K. Schrage, and G. Assmann. 1994. Sterol carrier protein X is a peroxisomal 3-oxoacyl coenzyme A thiolase with intrinsic sterol carrier and lipid transfer activity. J. Biol. Chem. 269: 21277-21283.
20. Baker, M. E., J. T. Billheimer, and J. F. Strauss III. 1991. Similarity between the amino-terminal portion of mammalian 58-kD sterol carrier protein (SCPx) and Escherichia coli acetyl-CoA acyltransferase: evidence for a gene fusion in SCPx. DNA Cell Biol. 10: 695-698.
21. Mori, T., T. Tsukamoto, H. Mori, Y. Tashiro, and Y. Fujiki. 1991. Molecular cloning and deduced amino acid sequence of nonspecific lipid transfer protein (sterol carrier protein 2) of rat liver: A higher molecular mass (60 kDa) protein contains the primary sequence of nonspecific lipid transfer protein as its C-terminal part. Proc. Natl. Acad. Sci. USA. 88: 4338-4342.
22. Wanders, R. J. A., R. B. H. Schutgens, and P. G. Barth. 1995. Peroxisomal disorders: a review. J. Neuropathol. Exp. Neurol. 54: 726-739.
23. Xu, R., and D. A. Cuebas. 1996. The reactions catalyzed by the inducible bifunctional enzyme of rat liver peroxisomes cannot lead to the formation of bile acids. Biochem. Biophys. Res. Commun. 221: 271-278.
24. Van Grumsven, E. G., E. van Berkel, L. IJlst, P. Vreken, J. B. C. de Klerk, J. Adamski, H. Lemonde, P. T. Clayton, D. A. Cuebas, and R. J. A. Wanders, 1998. Peroxisomal D-hydroxyacvl-CoA dehydrogenase deficiency: Resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency. Proc. Natl. Acad. Sci. USA. 95: 2128-2133.
25. Laemmli, U. K. 1970. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature. 227: 680-685.
26. Ossendorp, B. C., W. F. vorrhout, A. van Amerongen, F. Brunink, J. J. Batenburg, and K. W. A. Wirtz. 1996. Tissue-specific distribution of a peroxisomal 46-kDa protein related to lbe 58-kDa protein (sterol carrier protein x; sterol carrier protein 2/3-oxoacyl-CoA thiolase). Arch. Biochem. Biophys. 334: 251-260.
27. Seedorf, U., M. Raabe, P. Ellinghaus, F. Kannenberg, M. Fobker, T. Engel, S. Denis, F. Wouters, K. W. A. Wirtz, R. J. A. Wanders, N. Maeda, and G. Assmann. 1998. Defective peroxisomal catabolism of branched fatty acyl coenzyme A in mice lacking the sterol carrier protein-2/sterol carrier protein-x gene function. Genes & Dev. 12: 1189-1201.
28. Suzuki, Y., S. Yamaguchi, T. Orii, M. Tsuneoka, and Y. Tashiro. 1990. Nonspecific lipid transfer protein (sterol carrier protein-2) defective in patients with deficient peroxisomes. Cell Struct. Funct. 15: 301-308.
29. Mandel, H., M. Berant, A. Aizin, R. Gershony, S. Hemmli, R. B. H. Schutgens, and R. J. A. Wanders. 1992. Zellweger-like phenotype in two siblings: a defect in peroxisomal β-oxidation with elevated very long-chain fatty acids but normal bile acids. J. Inher. Metab. Dis. 15: 381-384.
30. Christensen, E., S. Anker pedersen, H. Leth, C. Jakobs, R. B. H. Schutgens, and R. J. A. Wanders. 1997. A new peroxisomal β-oxidation disorder in twin neonates: defective oxidation of both cerotic and pristanic acids. J. Inher. Metab. Dis. 20: 658-664.
31. Vanhole, C., F. de Zegher, P. Casaer, H. Devlieger, R. J. A. Wanders, G. Vanhove, and J. Jeaken. 1994. A new peroxisomal disorder with fetal and neonatal adrenal insufficiency. Arch. Dis. Child. 71: F55-F56.
32. Espeel, M., F. Roels, L. van Maldergem, D. de Craemer, G. Dacremont, R. J. A. Wanders, and T. Hashimoto. 1991. Peroxisomal localization of the immunoreactive β-oxidation enzymes in a neonate with a β-oxidation defect. Virhous Arch. A Pathol. Anat. 419: 301-308.
33. Van Maldergem, L., M. Espeel, R. J. A. Wanders, F. Roels, P. Gerard, F. Scalais, G. P. Mannaerts, M. Casteels, and Y. Gillerot. 1992. Neonatal seizures and severe hypotonia in a male infant suffering from a defect in peroxisomal β-oxidation. Neuromuse. Disord 2: 217-224.
34. Van Grunsven, E. G., E. van Berkel, P. A. W. Mooijer, P. A. Watkins, H. W. Moser, Y. Suzuki, L. L. Jiatig, T. Hashimoio, G. Hoefler, J. Adamski, and R. J. A. Waders. 1999. Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis. Am. J. Hum. Genet. 64: 99-107.
35. Schutgens, R. B. H., G. J. Romeyn, R. J. A. Wanders, H. van den Bosch, G. Schrakamp, and H. S. A. Heymans. 1984. Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferasc in patients with Zellweger (cerebro-hepato-renal) syndrome. Biochem. Biophys. Res. Commun. 120: 179-184.
36. Datta, N. S., G. N. Wilson, and A. K. Hajra. 1984. Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome. A new category of metabolic disease involving the absence of peroxisomes. N. Eng. J. Med. 311: 1080-1083.
37. Schrakamp, G., C. F., Roosenboom, R. B. H. Schutgens, R. J. A. Wanders, H. S. A. Heymans, J. M. Tager, and H. van den Bosch. 1985. Alkyl dihydroxyacetone phosphate synthase in human fibroblasts and its deficiency in Zellweger syndrome. J. Lipid Res. 26: 867-873.
38. Jansen, G. A., S. J. Mihalik, P. A. Watkins, H. W. Moser, C. Jakobs, S. Denis, and R. J. A. Wanders. 1996. Phytanoyl-CoA hydroxylase is present in human liver, located in peroxisomes, and deficient in Zellweger syndrome: direct, unequivocal evidence for the new, revised pathway of phytanic acid alpha-oxidation in humans. Biochem. Biophys. Res. Commun. 229: 205-210.
39. Baumgart, E., J. C. T. Vanhooren, M. Fransen, P. Marynen, M. Puype, J. Vandekerckhove, J. A. M. Leunissen, H. D. Fahimi, G. P. Mannaerts, and P. P. van Veldhoven. 1996. Molecular characterization of the human peroxisomal branched-chain acyl-CoA oxidase: cDNA cloning, chromosomal assignment, tissue distribution, and evidente for the absence of the protein in Zellweger syndrome. Proc. Natl. Acad. Sci. USA. 93: 13748-13753.
40. Wanders, R. J. A, M. Kos, B. Roest, A. J. Meijer, G. Schrakamp, H. S. A. Heymans, W. H. Tegelaers, H. van den Bosch, R. B. Schutgens, and J. M. Tager. 1984. Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome. Biochem. Biophys. Res. Commun. 123: 1054-1061.
41. Lazarow, P. B., V. Black, H. Shio, Y. Fujiki, A. K. Hajra, N. S. Datta, B. S. Bangaru, and J. Dancis. 1985. Zellweger syndrome: biochemical and morphological studies on two patients treated with clofibrate. Pediatr. Res. 19: 1356-1364.
42. Wanders, R. J. A., C. W. T. van Roermund, R. Westra, R. B. H. Schutgens, M. A. van der Ende, J. M. Tager, L. A. Monnens, H. Baadenhuysen, L. Govaerts, and H. Przyrembel. 1987. Alanine glyoxylate aminotransferase and the urinary excretion of oxalate and glycollate in hyperoxaluria type I and the Zellweger syndrome. Clin. Chim. Acta. 165: 311-319.
43. Dansen, T. B., J. Westerman, F. S. Wouters, R. J. A. Wanders, A. van Hock, T. W. J. Gadella, and K. W. A. Wirtz. 1999. High-affinity binding of very-long-chain fatly acyl-CoA esters to the peroxisomal non-specific lipid-transfer protein (sterol carrier protein-2). Biochem. J. 339: 193-199.
44. Wouters, F. S., P. E. Bastiaens, K. W. A. Wirtz, and T. M. Jovin. 1998. FRET microscopy demonstrates molecular association of non-specific lipid transfer protein (nsL-TP) with fatty acid oxidation enzymes in peroxisomes. EMBO J. 17: 7179-7189.
45. Suzuki, Y., L. L. Jiang, M. Souri, S. Miyazawa, S. Fukuda, Z. Zhang, M. Une, N. Shimozawa, N. Kondo, T. Orii, and T. Hashimoto. 1997. D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyaryl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder. Am. J. Hum. Genet. 61: 1153-1162.