Unusual gangliosidosis in emu (Dromaius novaehollandiae)

Journal of Neurochemistry

Volumn 68, Issue 5, 1997, Pages 2070-2078

  Freischütz, Bettina ^a   Tokuda, Akira ^a   Ariga, Toshio ^a   Bermudez, Alex J ^b   Yu, Robert K ^a  

^a VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MISSOURI   (United States)

Author keywords

Emu; Gangliosides; Gangliosidosis; Glycolipids; Neutral lipids; Sphingolipid activator proteins

Indexed keywords

GALACTOSYLCERAMIDE; GANGLIOSIDE GM1; GANGLIOSIDE GM2; GANGLIOSIDE GM3; GLYCOSPHINGOLIPID; SULFATIDE;

ANIMAL TISSUE; ARTICLE; ATAXIA; BIRD; BLEEDING; BRAIN; CONTROLLED STUDY; DEMYELINATION; GANGLIOSIDOSIS; LIVER; NONHUMAN; PRIORITY JOURNAL;

ANIMALIA; ATAXIA; AVES; DROMAIIDAE; DROMAIUS NOVAEHOLLANDIAE;

EID: 0038856165     PISSN: 00223042     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1471-4159.1997.68052070.x     Document Type: Article

References (66)

1. Ando S. (1983) Gangliosides in the nervous system. Neurochem. Int. 5, 507-552.
2. Ando S. and Saito M. (1987) TLC and HPTLC of phospholipids and glycolipids in health and disease, in Journal of Chromatography Library, Vol. 37 (Kuksis A., ed), pp. 266-310. Elsevier, Amsterdam.
3. Ando S. and Yu R. K. (1979) Isolation and characterization of two isomers of brain tetrasialogangliosides. J. Biol. Chem. 254, 12224-12229.
4. Ando S., Chang N.-C., and Yu R. K. (1978) High-performance thin-layer chromatography and densitometric determination of brain ganglioside compositions of several species. Anal. Biochem. 89, 437-450.
5. Ariga T., Murata T., Oshima M., Maezawa M., and Miyatake T. (1980) Characterization of glycosphingolipids by direct inlet chemical ionization mass spectrometry. J. Lipid Res. 21, 879-889.
6. Ariga T., Macala L. J., Saito M., Margolis R. K., Greene L. A., Margolis R. U., and Yu R. K. (1988) Lipid composition of PC12 pheochromocytoma cells: characterization of globoside as a major glycolipid. Biochemistry 27, 52-58.
7. Banerjee A., Burg J., Conzelmann E., Caroll M., and Sandhoff K. (1984) Enzyme-linked immunosorbent assay for the ganglioside GM2-activator protein - screening of normal human tissues and body fluids, of tissues of GM2 gangliosidosis, and for its subcellular location. Hoppe Seylers Z. Physiol. Chem. 365, 347-356.
8. Bermudez A. J., Johnson G. C., Vanier M. T., Schröder M., Suzuki K., Stogsdill P. L., Johnson G. S., O'Brien D., Moore C. P., and Fry W. W. (1995) Gangliosidosis in emus (Dromaius novaehollandiae). Avian Dis. 39, 292-303.
9. Bradford M. M. (1976) A rapid and sensitive method for the quatitation of microgram quantities of protein utulizing the principle of protein-dye binding. Anal. Biochem. 72, 248-254.
10. Bradova V., Smid F., Ulrich-Bott B., Roggendorf W., Paton B. C., and Harzer K. (1993) Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs. Multiple glycolipid elevations (including lactosylceramidosis), partial enzyme deficiencies and ultrastructure of the skin in this generalized sphingolipid storage disease. Hum. Genet. 92, 143-152.
11. Christomanou H., Aignesberger A., and Linke R. P. (1986) 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.
12. Christomanou H., Chabas A., Pampols T., and Guardiola A. (1989) Activator protein deficient Gaucher's disease. Klin. Wochenschr. 67, 999-1003.
13. Conzelmann E. and Sandhoff K. (1978) Deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degration of ganglioside GM2 and glycolipid GA2. Proc. Natl. Acad. Sci. USA 75, 3979-3983.
14. Conzelmann E. and Sandhoff K. (1979) Purification and characterization of an activator protein for the degradation of glycolipids GM2 and GA2 by hexosaminidase A. Hoppe Seylers Z. Physiol. Chem. 360, 1837-1847.
15. Conzelmann E., Burg J., Stephan G., and Sandhoff K. (1982) Complexing of glycolipids and their transfer between membranes by the activator protein for degradation of lysosomal ganglioside GM2. Eur. J. Biochem. 123, 455-461.
16. d'Azzo A., Andria G., Strisciuglio P., and Galjaard H. (1995) Galactosialidosis, in The Metabolic and Molecular Basis of Inherited Disease (Scriver C. R., Beaudet A. L., Sly W. S., and Valle D., eds), pp. 2825-2837. McGraw-Hill, New York.
17. Freischütz B., Tokuda A., Ariga T., Bermudez A. J., and Yu R. K. (1996) Abnormal glycolipid composition in emu brain and liver. (Abstr.) J. Neurochem. 66 (Suppl. 1), S43.
18. Fujita N., Suzuki K., Vanier M. T., Popko B., Maeda N., Klein A., Henseler M., Sanhoff K., Nakayasu H., and Suzuki K. (1996) Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids. Hum. Mol. Genet. 5, 711-725.
19. Fürst W. and Sandhoff K. (1992) Activator proteins and topology of lysosomal sphingolipid catabolism. Biochim. Biophys. Acta 1126, 1-16.
20. Hahn A. F., Gordon B. A., Gilbert J. J., and Hinton G. G., (1981) The AB-variant of metachromatic leukodystrophy (postulated activator protein deficiency). Light and electron microscopic findings in a sural nerve biopsy. Acta Neuropathol. (Berl.) 55, 281-287.
21. Hahn A. F., Gordon B. A., Feleki V., Hinton G. G., and Gilbert J. J. (1982) A variant form of metachromatic leukodystrophy without arylsulfatase deficiency. Ann. Neurol. 12, 33-36.
22. Hakomori S. (1990) Bifunctional role of glycosphingolipids. J. Biol. Chem. 265, 18713-18716.
23. Harzer K., Paton B. C., Poulos A., Kustermann-Kuhn B., Roggendorf W., Grisar T., and Popp M. (1989) Sphinolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses. Eur J. Pediatr. 149, 31-39.
24. Hechtmann P., Gordon B. A., and Ng Ying Kin N. M. K. (1982) Deficiency of the hexosaminidase A activator protein in a case of GM2 gangliosidosis; variant AB. Pediatr. Res. 16, 217-222.
25. 2 gangliosidosis. J. Neurochem. 40, 168-175.
26. Holtschmidt H., Sanhoff K., Fürst W., Kwon H. Y., Schnabel D., and Suzuki K. (1991a) The organization of the gene for the human cerebroside sulfate activator protein. FEBS Lett. 280, 267-270.
27. Holtschmidt H., Sandhoff K., Kwon H. Y., Harzer K., Nakano T., and Suzuki K. (1991b) Sulfatide activator protein: alternative splicing generates three messenger RNAs and a newly found mutation responsible for a clinical disease. J. Biol. Chem. 266, 7556-7560.
28. Kasai N., Sillerud L. O., and Yu R. K. (1982) A convenient method for the preparation of asialo-GM1. Lipids 17, 107-110.
29. Kishimoto Y., Hiraiwa M., and O'Brien J. S. (1992) Saposins: structure, function, distribution, and molecular genetics. J. Lipid Res. 33, 1255-1267.
30. Klima H., Tanaka A., Schnabel D., Nakano T., Schröder M., Suzuki K., and Sandhoff K. (1991) Characterization of full-length cDNAs and the gene coding for the human GM2 activator protein. FEBS Lett. 289, 260-264.
31. Kretz K. A., Carson G. S., Morimoto S., Kishimoto Y., Fluharty A. L. and O'Brien J. S. (1990) Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect. Proc. Natl. Acad. Sci. USA 87, 2541-2544.
32. Kytzia H. J. and Sandhoff K. (1985) Evidence of two different active sites on human β-hexosaminidase A. J. Biol. Chem. 260, 7568-7572.
33. Kytzia H. J., Hinrichs U., Maire I., Suzuki K., and Sandhoff K. (1983) Variant of GM2-gangliosidosis with hexosaminidase A having a severely changed substrate specificity. EMBO J. 2, 1201-1205.
34. Ledeen R. W. (1984) Biology of gangliosides: neuritogenic and neuronotrophic properties. J. Neurosci. Res. 12, 147-159.
35. Ledeen R. W. (1989) Biosynthesis, metabolism, and biological effects of gangliosides, in Neurobiology of Glycoconjugates (Margolis R. U. and Margolis R. K., eds), pp. 43-83. Plenum, New York.
36. Ledeen R. W. and Yu R. K. (1982) Gangliosides: structure, isolation, and analysis, in Methods in Enzymology, Vol. 83, Part D (Ginsburg V., ed), pp. 139-191. Academic Press, New York.
37. 7) as a major component. J. Neurochem. 21, 829-839.
38. Li S.-C., Hirabayashi Y., and Li Y.-T. (1981) A protein activator for the enzymic hydrolysis of GM2 ganglioside. J. Biol. Chem. 256, 6234-6240.
39. Meier E. M., Schwarzmann G., Fürst W., and Sandhoff K. (1991) The human GM2 activator protein A substrate specific cofactor of beta-hexosaminidase A. J. Biol. Chem. 266, 1879-1887.
40. Miyatake T., Kuriyama M., Tsuji S., Atsumi T., Suzuki M., and Ariga T. (1984) Sialidosis with partial β-galactosidase deficiency (galactosialidosis). Int. J. Neurol. 18, 138-150.
41. Nakano T., Sandhoff K., Stümper J., Christomanou H., and Suzuki K. (1989) Structure of full-length cDNA coding for sulfatide activator a co-β-glucosidase and two other homologous proteins: two alternate forms of the sulfatide activator. J. Biochem. (Tokyo) 105, 152-154.
42. Nilsson O. and Svennerholm L. (1982) Characterization and quantitative determination of gangliosides and neutral glycosphingolipids in human liver. J. Lipid Res. 23, 327-334.
43. O'Brien J. S., Kretz K. A., Dewji N. N., Wenger D. A., Esch F., and Fluharty A. L. (1988) Coding of two sphingolipid activator proteins (SAP-1 and SAP-2) by same genetic locus. Science 241, 1098-1101.
44. Rafi M. A., Zhang X.-L., De Gala G., and Wenger D. A. (1990) Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy. Biochem. Biophys. Res. Commun. 166, 1017-1023.
45. Rafi M. A., DeGala G., Zhang X., and Wenger D. A. (1993) Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiency. Somat. Cell Mol. Genet. 19, 1-8.
46. Rorman E. G., Scheinker V., and Grabowski G. A. (1992) Structure and evolution of the human prosaposin chromosomal gene. Genomics 13, 312-318.
47. Saito M., Kasai N., and Yu R. K. (1985) In situ immunological determination of basic carbohydrate structures of gangliosides on thin-layer plates. Anal. Biochem. 148, 54-58.
48. Sandhoff K., Harzer K., Wässle W., and Jatzkewitz H. (1971) Enzyme alterations and lipid storage in three variants of Tay-Sachs disease. J. Neurochem. 18, 2469-2473.
49. Sandhoff K., Harzer K., and Fürst W. (1995) Sphingolipid activator proteins, in The Metabolic and Molecular Basis of Inherited Disease (Scriver C. R., Beaudet A. L., Sly W. S., and Valle D., eds), pp. 2427-2441. McGraw-Hill, New York.
50. Schengrund C.-L. (1990) The role(s) of gangliosides in neural differentiation and repair: a perspective. Brain Res. Bull. 24, 131-141.
51. Schlote W., Harzer K., Christomanou H., Paton B. C., Kustermann-Kuhn B., Schmid B., Seeger J., Beudt U., Schuster I., and Langenbeck U. (1991) Sphingolipid activator protein 1 deficiency in metachromatic leukodystrophy with normal arysulfatase A activity - a clinical, morphological biochemical, and immunological study. Eur. J. Pediatr. 150, 584-591.
52. Schnabel D., Schröder M., and Sandhoff K. (1991) Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease. FEBS Lett. 284, 57-59.
53. Schnabel D., Schröder M., Fürst W., Klein A., Hurwitz R., Zenk T., Weber J., Harzer K., Paton B., Poulos A., Suzuki K., and Sandhoff K. (1992) Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene. J. Biol. Chem. 267, 3312-3315.
54. Schröder M., Klima H., Nakano T., Kwon H., Quintern L. E., Gärtner S., Suzuki K., and Sandhoff K. (1989) Isolation of a c-DNA encoding the human GM2-activator protein. FEBS Lett. 251, 197-200.
55. Shapiro L. J., Aleck K. A., Kaback M. M., Itabashi H., Desnick R. J., Brand N., Stevens R. L., Fluharty A. L., and Kihara H. (1979) Metachromatic leukodystrophy without arylsulfatase A deficiency. Pediatr. Res. 13, 1179-1181.
56. Stevens R. L., Fluharty A. L., Kihara H., Kaback M. M., Shapiro L. J., Marsh B., and Sandhoff K. (1981) Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy. Am. J. Hum. Genet. 33, 900-906.
57. Suzuki K. (1995) Sphingolipid activator proteins. Essays Biochem. 29, 25-37.
58. Svennerholm L. (1957) Quantitative estimation of sialic acids. II. A colorimetric resorcinol-hydrochloric acid method. Biochim. Biophys. Acta 24, 604-611.
59. Svennerholm L. (1963) Chromatographic separation of human brain gangliosides. J. Neurochem. 10, 613-623.
60. Wenger D. A., DeGala D., Williams C., Taylor H. A., Stevenson R. E., Pruitt J. R., Miller J., Garen P. D., and Balentine J. D. (1989) Clinical, pathological, and biochemical studies on an infantile case of sulfatide/GM1 activator protein deficiency. Am. J. Med. Genet. 33, 255-265.
61. Yamada T., Tsuji S., Ariga T., and Miyatake T. (1983) Lysosomal sialidase deficiency in sialidosis with partial β-galactosidase deficiency. Biochim. Biophys. Acta 775, 106-111.
62. Yoshino H., Miyashita K., Miyatani N., Ariga T., Hashimoto Y., Tsuji S., Oyanagi K., Ohama E., Ikuta F., Suzuki A., and Miyatake T. (1990) Abnormal glycosphingolipid metabolism in the nervous system of galactosialidosis. J. Neurol. Sci. 97, 53-65.
63. Yoshino H., Ariga T., Latov N., Miyatake T., Kushi Y., Kasama T., Handa S., and Yu R. K. (1993) Fucosyl-GM1 in human sensory nervous tissue is a target antigen in patients with autoimmune neuropathies. J. Neurochem. 61, 658-663.
64. Yu R. K. and Saito M. (1989) Structure and localization of gangliosides in Neurobiology of Glycoconjugates (Margolis R. U. and Margolis R. K., eds), pp. 1-42. Plenum, New York.
65. Zhang X.-L., Rafi M. A., DeGala G., and Wenger D. A. (1990) Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency. Proc. Natl. Acad. Sci. USA 87, 1426-1430.
66. Zhang X.-L., Rafi M. A., DeGala G., and Wenger D. A. (1991) The mechanism for a 33-nucleotide insertion in messenger RNA causing sphingolipid activator protein (SAP-1)-deficient metachromatic leukodystrophy. Hum. Genet. 87, 211-215.