Ouchterlony double immunodiffusion method demonstrates absence of ferritin immunoreactivity in visceral organs from nine patients with Niemann-Pick disease type C

Biochemical and Molecular Medicine

Volumn 58, Issue 2, 1996, Pages 176-183

  Christomanou, Helen ^a   Harzer, Klaus ^b  

^a Lab of Neurochem and Molec Biol   (Greece)

^b UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FIBROBLAST CULTURE; HUMAN; HUMAN TISSUE; IMMUNODIFFUSION; INFANT; IRON STORAGE; LIPID OXIDATION; LIVER; LYSOSOME STORAGE DISEASE; MALE; NEUROLOGIC DISEASE; NEWBORN; NIEMANN PICK DISEASE; PROTEIN ANALYSIS; SPLEEN;

ORYCTOLAGUS CUNICULUS;

EID: 0030221209     PISSN: 10773150     EISSN: None     Source Type: Journal    
DOI: 10.1006/bmme.1996.0046     Document Type: Article

References (43)

1. 1. Brady RO. Sphingomyelin lipidosis: Niemann-Pick disease. In The Metabolic Basis of Inherited Disease (Stanbury JB, Wyngaarden JB, Fredrikson DS, Goldstein JL, Brown MS, Eds.). New York: McGraw-Hill, 1983, pp 834-841.
2. 2. Spence MW, Callahan JW. Sphingomyelin-cholesterol lipidoses: The Niemann-Pick group of diseases. In The Metabolic Basis of Inherited Disease (Scriver CR, Beaudet AL, Sly VS, Valle D, Eds.). New York: McGraw-Hill, 1989, pp 1655-1676.
3. 3. Pentchev PG, Vanier MT, Suzuki K, Patterson MC. Niemann-Pick disease type C: A cellular cholesterol lipidosis. In The Metabolic and Molecular Bases of Inherited Disease (Scriver CR, Beaudet AL, Sly VS, Valle D, Eds.). New York: McGraw-Hill, 1995, pp 2625-2639.
4. 4. Vanier MT, Pentchev PG, Rodriguez-Lafrasse C, Rousson R. Niemann-Pick disease type C: An update. J Inher Metab Dis 14:580-595, 1991.
5. 5. Vanier MT, Wenger DA, Comly ME, Rousson R, Brady RO, Pentchev PG. Niemann-Pick disease group C: Clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients. Clin Genet 33:331-348, 1988.
6. 6. Vanier MT. Biochemical studies in Niemann-Pick disease. I-Major sphingolipids of liver and spleen. Biochim Biophys Acta 750:178-184, 1983.
7. 7. Pentchev PG, Brady RO, Blanchette-Mackie EJ, Vanier MT, Carstea ED, Parker CC, Goldin E, Roff CF. The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol. Biochim Biophys Acta 1225:235-243, 1994.
8. 8. Vanier MT, Rodriguez-Lafrasse C, Rousson R, Gazzah N, Juge MC, Pentchev PG, Revol A, Louisot P. Type C Niemann-Pick disease. Spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing. Biochim Biophys Acta 1096:328-337, 1991.
9. 9. Vanier MT, Rodriguez-Lafrasse C, Rousson R, Duthel S, Harzer K, Pentchev PG, Revol A, Louisot P. Type C Niemann-Pick Disease: Biochemical aspects and phenotypic heterogeneity. Dev Neurosci 13:307-314, 1991.
10. 10. Christomanou H, Kellermann J, Linke RP, Harzer K. Deficient Ferritin Immunoreactivity in Visceral Organs from Four Patients with Niemann-Pick Disease Type C. Biochem Mol Med 55:105-115, 1995.
11. 11. Harford JB. Cellular Iron Homeostasis: Paradigm for Mechanisms of Posttranscriptional Control of Gene Expression. Prog Liver Dis 12:47-62, 1994.
12. 12. Theil EC. Ferritin: Structure, gene regulation, and cellular function in animals, plants and microorganisms. Annu Rev Biochem 56:289-315, 1987.
13. 13. Andrews SC, Arosio P. Bottke W, Briat JF, von Darl M, Harrison PM, Laulhere JP, Levi S, Lobreaux S, Yewdall SJ. Structure, function, and evolution of ferritins.J Inorg Biochem 47:61-74, 1992.
14. 14. Halliday JW, Ramm GA, Moss D, Powell LW. A New Look at Ferritin Metabolism. Progress in Iron Research (Hershko C, Ed.). New York: Plenum, 1994, pp 149-156.
15. 15. Hentze MW. Translational Control by Iron-Responsive Elements. Progress in Iron Research (Hershko C, Ed.). New York: Plenum, 1994, pp 119-126.
16. 16. White K, Munro HN. Induction of ferritin subunit synthesis by iron is regulated at both the transcriptional and the translational levels. J Biol Chem 263:8938-8942, 1988.
17. 17. Klausner RD, Harford JB. Cis-trans models for post-transcriptional gene regulation. Science 246:870-872, 1989.
18. 18. Hentze MW, Caughman SW, Rouault TA, Barriocanal JG, Dancis A, Harford JB, Klausner RD. Identification of the iron-responsive element for the translational regulation of human ferritin mRNA. Science 238:1570-1573, 1987.
19. 19. Leibold EA, Munro HN. Cytoplasmic protein binds in vitro to a highly conserved sequence in the 5′ untranslated regions of ferritin heavy-and light-subunit mRNAs. Proc Natl Acad Sci USA 85:2171-2175, 1988.
20. 20. Theil EC. Regulation of ferritin and transferrin receptor mRNAs. J Biol Chem 265:4771-4774, 1990.
21. 21. Steinberg D, Parthasarathy S, Carew TE, Khoo JC, Witztum JL. Beyond cholesterol: modifications of low density lipoprotein that increase its atherogenicity. N Engl J Med 320:915-924, 1989.
22. 22. Hirano K, Ogihara T, Miki M, Yasuda H, Tamai H, Kawamura N, Mino M. Homocysteine induces iron-catalyzed lipid peroxidation of low-density lipoprotein that is prevented by alpha-tocopherol. Free Radical Res 21:267-276, 1994.
23. 23. Fuhrman B, Oiknine J, Aviram M. Iron induces lipid peroxidation in cultured macrophages, increases their ability to oxidatively modify LDL, and affects their secretory properties. Atherosclerosis 111:65-78, 1994.
24. 24. Abdalla DS, Campa A, Monteiro HP. Low density lipoprotein oxidation by stimulated neutrophils and ferritin. Atherosclerosis 97:149-159, 1992.
25. 25. Harzer K, Schlote W, Peiffer J, Benz HU, Anzil AP. Neurovisceral lipidosis compatible with Niemann-Pick disease type C: Morphological and biochemical studies of a late infantile case and enzyme and lipid assays in a prenatal case of the same family. Acta Neuropathol 43:97-104, 1978.
26. 26. Christomanou H, Aignesberger A, Linke RP. Immunochemical characterization of two activator proteins stimulating enzymic sphingomyelin degradation in vitro. Absence of one of them in a human Gaucher disease variant. Biol Chem Hoppe-Seyler 367:879-890, 1986.
27. 27. Lowry OH, Rosebrough NJ, Farr AL, Randall RJ. Protein measurement with the Folin phenol reagent. J Biol Chem 193:265-272, 1951.
28. 28. Ouchterlony Ö. Gel-diffusion techniques. In Immunological Methods (Ackroyd JF, Ed.). Oxford: Blackwell, 1964.
29. 29. Christomanou H, Kleinschmidt T. Isolation of two forms of an activator protein for the enzymic sphingomyelin degradation from human Gaucher spleen. Biol Chem Hoppe-Seyler 366:245-256, 1985.
30. 30. Laemmli UK, Favre M. Maturation of the head of bacteriophage T4. J Mol Biol 80:575-599, 1973.
31. 31. Balla G, Jacob HS, Balla J, Rosenberg M, Nath K, Apple F, Eaton JW, Vercelloti GM. Ferritin: a cytoprotective antioxidant strategem of endothelium. J Biol Chem 267:18148-18153, 1992.
32. 32. Cairo G, Tacchini L, Pogliaghi G, Anzon E, Tomasi A, Bernelli-Zazzera A. Induction of Ferritin Synthesis by Oxidative Stress. Transcriptional and post-transcriptional regulation by expansion of the "free" iron pool. J Biol Chem 270:700-703, 1995.
33. 33. Qi Y, Jamindar TM, Dawson G. Hypoxia alters iron homeostasis and induces ferritin synthesis in oligodendrocytes. J Neurochem 64:2458-2464, 1995.
34. 34. Van Lenten BJ, Prieve J, Navab M, Kama S, Lusis AJ, Fogelman AM. Lipid-induced changes in intracellular iron homeostasis in vitro and in vivo. J Clin Invest 95:2104-2110, 1995.
35. 35. Maor I, Mandel H, Aviram M. Macrophage uptake of oxidized LDL inhibits lysosomal sphingomyelinase, thus causing the accumulation of unesterified cholesterol-sphingomyelin-rich particles in the lysosomes: A possible role for 7-ketocholesterol. Arterioscler Thromb Vasc Biol 15:1378-1387, 1995.
36. 36. Goldstein JL, Hobbs HH, Brown MS. Familial Hypercholesterolemia. In The Metabolic and Molecular Bases of Inherited Disease (Scriver CR, Beaudet AL, Sly VS, Valle D, Eds.). New York: McGraw-Hill, 1995, pp 1981-2030.
37. 37. Britton RS, Ramm GA, Olynyk J, Singh R, O'Neill R, Bacon BR. Pathophysiology of iron toxicity. Adv Exp Med Biol 356:239-253, 1994.
38. 38. Carstea ED, Polymeropoulos MH, Parker CC, Detera-Wadleigh SD, O'Neil RR, Patterson MC, Goldin E, Xiao H, Straub RE, Vanier MT, Brady RO, Pentchev PG. Linkage of Niemann-Pick disease type C to human chromosome 18. Proc Natl Acad Sci USA 90:2002-2004, 1993.
39. 39. Caskey JH, Jones C, Miller YE, Seligman PA. Human ferritin gene is assigned to chromosome 19. Proc Natl Acad Sci USA 80:482-486, 1983
40. 40. Bull PC, Cox DW. Wilson disease and Menkes disease: new handles on heavy-metal transport. Trends Genet 10:246-252, 1994.
41. 41. Conrad ME, Umbreit JN. Moore EG, Peterson RDA, Jones MB. A newly indentified iron binding protein in duodenal mucosa of rats. Purification and characterization of mobilferrin. J Biol Chem 265:5273-5279, 1990.
42. 42. Teichman R, Stremmel W. Iron uptake by human upper small intestine microvillus membrane vesicles. Indications for a facilitated transport mechanism mediated by a membrane iron-binding protein. J Clin Invest 86:2145-2153, 1990.
43. 43. Bothwell TH, Charlton RW, Motulsky AG. Hemochromatosis. In The Metabolic and Molecular Bases of Inherited Disease (Scriver CR, Beaudet AL, Sly VS, Valle D, Eds.). New York: McGraw-Hill, 1995, pp 2237-2269.