Isoenzymes of N-acetyl-β-hexosaminidase

Acta Biochimica Polonica

Volumn 46, Issue 3, 1999, Pages 739-751

  Zwierz, Krzysztof ^a   Zalewska, Anna ^a   Zoch Zwierz, Walentyna ^a  

^a MEDICAL UNIVERSITY OF BIALYSTOK   (Poland)

Author keywords

Isoenzymes; N acetyl hexosaminidase

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE; ISOENZYME; OLIGOSACCHARIDE;

AMINO ACID SEQUENCE; ANIMAL; CARBOHYDRATE ANALYSIS; CHEMISTRY; ENZYME ACTIVE SITE; ENZYME SPECIFICITY; ENZYMOLOGY; GENETICS; HUMAN; LIVER; METABOLISM; MOLECULAR GENETICS; PROTEIN PROCESSING; REVIEW; SANDHOFF DISEASE; SEQUENCE HOMOLOGY; TAY SACHS DISEASE;

AMINO ACID SEQUENCE; ANIMALS; BETA-N-ACETYLHEXOSAMINIDASE; CARBOHYDRATE SEQUENCE; CATALYTIC DOMAIN; HUMANS; ISOENZYMES; LIVER; MOLECULAR SEQUENCE DATA; OLIGOSACCHARIDES; PROTEIN PROCESSING, POST-TRANSLATIONAL; SANDHOFF DISEASE; SEQUENCE HOMOLOGY, AMINO ACID; SUBSTRATE SPECIFICITY; TAY-SACHS DISEASE;

EID: 0033253916     PISSN: 0001527X     EISSN: None     Source Type: Journal    
DOI: 10.18388/abp.1999_4146     Document Type: Review

References (83)

1. Zwierz, K., Juszkiewicz, J., Arciuch, L. & Gindzieński, A. (1992) N-Acetyl-β-D-hexosaminidase - enzyme Tay-Sachs's and Sandhoff's diseases. Post. Bioch. 38, 127-132 (in Polish).
2. Suzuki, K., Sango, K., Proia, R.L. & Langman, C. (1997) Mice deficient of all forms of lysosomal β-hexosaminidase show mucopolysaccharidosis-like pathology. J. Neuropathol. Exp. Neurol. 56, 693-703.
3. Sango, K., McDonals, M.P., Crawley, J.N., Mack, M.L., Tifft, C.J., Skop, E., Starr, C.M., Hoffmann, A., Sandhoff, K., Suzuki, K. & Proia, R.L. (1996) Mice lacking both subunits of lysosomal β-hexosaminidase display gangliosidosis and mucopolysaccharidosis. Nature Genet. 14, 348-352.
4. Lew, D.B., Brown, E.R., Dempsey, B.K., Wright, H.M. & Malik, K.U. (1997) Contribution of PKC to β-hexosaminidase induced airway smooth muscle proliferation. Am. J. Physiol. 272, L 639-643.
5. Raczek, S., Yeung, C.H., Hasilik, A., Robenek, H., Herstle, L., Schulze, H. & Cooper, T.G. (1995) Immunocytochemical localization of some lysosomal hydrolases, their presence in luminal fluid and their directional secretion by human epididymal cells in culture. Cell Tissue Res. 280, 415-425.
6. Godknecht, A. & Honegger, T.G. (1991) Isolation, characterization and localization of a sperm-bound N-acetylglucosaminidase that is indispensable for fertilization in the ascidian Phallusia mammillata. Dev. Biol. 143, 398-407.
7. Hermo, L., Adamali, H.I., Mahuran, D., Gravel, R.A. & Traser, J.M. (1997) β-Hexosaminidase immunolocalization and α- and β-subunit expression in the rat testis and epidymis. Mol. Reprod. Dev. 46, 227-242.
8. Miller, D., Gong, X., Decker, G. & Shur, B.D. (1993) Egg cortical granule N-acetylglucosaminidase is required for the mouse zona pellucida block to polyspermy. J. Cell Biol. 123, 1431-1440.
9. Perez, L.F. & Tutor, J.C. (1998) Assay of β-N-acetylhexosaminidase isoenzymes in different biological specimens by means of differentiation of their activation energies. Clin. Chem. 44, 226-231.
10. Neufeld, E.F. (1989) Natural history and inherited disorders of a lysosomal enzyme β-hexosaminidase. J. Biol. Chem. 264, 10927-10930.
11. Pennybacker, M., Liessem, B., Moczall, H., Tifft, C.J., Sandhoff, K. & Proia, R.L. (1996) Identification of domains in human hexosaminidase that determine substrate specificity. J. Biol. Chem. 271, 17377-17382.
12. Tse, R., Wu, Y.J., Vavougios, G., Hou, Y., Hinek, A. & Mahuran, D.J. (1996) Identification of functional domains within the α and β subunits of β-hexosaminidase A through expression of α-β fusion proteins. Biochemistry 35, 10894-10903.
13. Norflus, F., Yamanaka, S. & Proia, R.L. (1996) Promoters for the human β-hexosaminidase genes HEX A, and HEX B. DNA Cell Biol. 15, 89-97.
14. Zhang, Y., Wick, D.A., Haas, A.L., Seetharan, B. & Dahms, N.M. (1995) Regulation of lysosomal and ubiquitin degradative pathways in differentiating human intestinal Caco-2 cells. Biochim. Biophys. Acta 1267, 15-24.
15. Kuznetsov, G. & Nigam, S.K. (1998) Folding of secretory membrane proteins. N. Engl. J. Med. 339, 1688-1695.
16. Tatu, U. & Helenius, A. (1997) Interaction between newly synthesized glycoproteins, calnexin and a network of resident chaperones in the endoplasmic reticulum. J. Cell. Biol. 136, 555-565.
17. Pollard, M.G., Travers, K.J. & Weissmann, J.S. (1998) Ero 1p: A novel and ubiquitous protein with an essential role in oxidative protein folding in the endoplasmic reticulum. Mol. Cell 1, 171-182.
18. Emiliani, C., Locci, P., Becchetti, E., Marinucci, L., Bellachioma, G. & Orlacchio, A. (1991) Increase in intermediate forms of β-N-acetylhexosaminidase during rat liver development and regeneration. Int. J. Biochem. 23, 215-219.
19. Mahuran, D. (1995) β-Hexosaminidase: Biosynthesis and processing of the normal enzyme and identification of mutations causing Jewish Tay-Sachs disease. Clin. Biochem. 28, 101-106.
20. Tse, R., Vavourgios, G., Hou, Y. & Mahuran, D.J. (1996) Identification of an active acidic residue in the catalytic site of β-hexosaminidase. Biochemistry 35, 7599-7607.
21. Hou, Y., Vavourgios, G., Hinek, A., Wu, K.K., Hechtman, P., Kaplan, F. & Mahuran, D.J. (1996) The Val 192 Leu mutation in the α-sub-unit of β-hexosaminidase A is not associated with B 1 variant form of Tay-Sachs disease. Am. J. Hum. Genet. 59, 52-58.
22. M2 ganglioside resulting in chronic Sandhoff disease. J. Biol. Chem. 273, 21386-21392.
23. Presley, J.F., Cole, N.B., Schroer, T.A., Hirschberg, K., Zaal, K.J.M. & Lippincott-Schwartz, J. (1997) ER-to -Golgi transport visualized in living cells. Nature 389, 81-85.
24. Hamm Alvarez, S.F., DaCosta, S., Yang, T., Wei, X., Gierow, J.P. & Mircheff, A.K. (1997) Cholinergic stimulation of lacrimal cells promotes redistribution of membrane associated kinesin and secretory protein, β-hexosaminidase, and increases kinesin motor activity. Exp. Eye Res. 64, 141-156.
25. Lazzarino, D.A. & Gabel, C.A. (1988) Biosynthesis of the mannose-6-phosphate recognition marker in transport impaired mouse lymphoma cell. J. Biol. Chem. 263, 10118-10126.
26. Petroulakis, E., Cao, Z., Clarke, J.T., Mahuran, D.J., Lee, G. & Tiggs Raine, B. (1998) W 474 C amino acid substitution affects early processing of the α-subunit of β-hexosaminidase A and is associated with G (M2) gangliosidosis. Hum. Genet. 11, 432-442.
27. Hoeflich, A., Wolf, E., Braulke, T., Koepf, G., Kessler, U., Brem, G., Rascher, W., Blum, W. & Kiess, W. (1995) Does the overexpression of pro-insulin-like growth factor-II in transfected human embryonic kidney fibroblasts increase the secretion of lysosomal enzymes. Eur. J. Biochem. 232, 172-178.
28. Alberts, B., Bray, D., Lewis, J., Raff, M., Roberts, K. & Watson, J.D. (1994) Molecular Biology of the Cell; pp. 610-615, Garland, New York, London.
29. Casciola-Rosen, L.A. & Hubbard, A.L. (1991) Hydrolases in intracellular compartments of rat liver cells. Evidence for selective activation and/or delivery. J. Biol. Chem. 266, 4341-4347.
30. Lemansky, P., Brix, K. & Herzog, V. (1998) Iodination of mature cathepsin D in thymocytes as an indicator for its transport to the cell surface. Eur. J. Cell Biol. 76, 53-62.
31. Mia̧czyńska, M. (1997) Rab/Ypt type of GTPases and their escort proteins (REP) in the regulation of membrane transport. Post. Bioch. 43, 231-237 (in Polish).
32. DaCosta, S.R., Yarber, F.A., Zhang, L., Sonee, M. & Hamm Alvarez, S.F. (1998) Microtubules facilitate the stimulated secretion of lacrimal acinar cells. J. Cell Sci. 111, 1267-1276.
33. Yonei, S.G., Oishi, K. & Uchida, M.K (1995) Regulation of exocytosis by the small GTP-binding protein Rho in rat basophilic leukemia (RBL 2H 3) cells. Gen. Pharmacol. 26, 1583-1589.
34. Sudo, N., Tanaka, K., Koga, Y., Okumura, Y., Kubo, C. & Nomoto, K. (1996) Extracellular ATP activates mast cells via a mechanism that is different from the activation induced by the cross-linking of Fc receptors. J. Immunol. 156, 3970-3979.
35. 2+ Ca channels and exocytosis. Eur. J. Pharmacol. 350, 353-361.
36. Paulussen, J.J., Fischer, M.J., Roelofsen, E.P., Horbach, D.A., deMol, N.J. & Janssen, L.H. (1996) Oxatomide and derivatives as inhibitors of mediator release from a mast cell model. Structure activity relationship. Arzneimittelforschung 46, 496-501.
37. Fischer, M.J., Paulussen, J.J., Horbach, D.A., Roelofsen, E.P., van Miltenburg, J.C., deMol, N.J. & Janssen, L.H. (1995) Inhibition of mediator release in RBL-2-H-3 cells by some H 1-antagonist derived anti-allergic drugs: Relation to lipophilicity and membrane effects. Inflamm. Res. 44, 92-97.
38. Lüllinann Rauch, R., Pods, R. & Von Witzendorff, B. (1995) Tilorone-induced lysosomal storage of sulphated glycosaminoglycans can be separated from tilorone enhancement of lysosomal enzyme secretion. Biochem. Pharmacol. 49, 1223-1233.
39. Kaneko, Y., Okada, N., Baranyi, L., Azuma, T. & Okada, H. (1995) Antagonistic peptides against human anaphylotoxin C5a. Immunology 86, 149-154.
40. Lambert, R.W. (1998) Do cytokines have a role in the regulation of lacrimal gland acinar cell ion transport and protein secretion. Adv. Exp. Biol. Med. 438, 499-503.
41. Lügering, N., Kucharzik, T., Stein, H., Winde, G., Lügering, A., Hasilik, A., Domschke, W. & Stoll, R. (1998) Il-10 synergizes with IL-4 and Il-13 in inhibiting lysosomal enzyme secretion by human monocytes and lamina propria mononuclear cells from patients with inflammatory bowel disease. Dig. Dis. Sci. 43, 706-714.
42. Skudlarek, M.D., Novak, E.K. & Swank, R.T. (1984) Processing of lysosomal enzymes in macrophages and kidney; in Lysosomes in Biology and Pathology (Dingle, I.T., Dean, R.T. & Sly, W.S., eds.) 7, pp. 17-44.
43. Hultberg, B., Floren, C.H., Isaksson, A. & Jensen, E. (1995) Liver disease and serum hexosaminidase levels. Studies in a human hepatoma cell-line (Hep.G2 cells). Liver 15, 99-103.
44. Gosiewska, A., Rutkowska, J., Szelengowicz, M., Najmoła, I., Gindzieński, A. & Zwierz, K. (1986-87) Purification and properties of N-acetyl-β-D-glucosaminidase from human gastric mucous membrane. Roczn. Akad. Med. Białystok 31-32, 29-38.
45. Yoshida, K.-I. (1994) Demonstration and some properties of N-acetyl-β-D-hexosaminidase (HEX) C isoenzyme in human renal tissues: Relative increase in HEX C activity in renal cell carcinoma. Clin. Chim. Acta 226, 55-65.
46. M2 activator protein. J. Biol. Chem. 270, 24246-24251.
47. Hou, Y., Tse, R. & Mahuran, D.J. (1996) Direct determination of the substrate specificity of the α-active site in heterodimeric β-hexosaminidase A. Biochemistry 35, 3963-3969.
48. Geiger, B., Arnon, R. & Sandhoff, K. (1977) Immunochemical and biochemical investigation of hexosaminidase S. Am. J. Hum. Genet. 29, 508-522.
49. Liessem, B., Glombitza, G.J., Knoll, F., Lehman, J., Kellermann, J., Lottspeich, F. & Sandhoff, K. (1995) Photoaffinity labeling of human lysosomal β-hexosaminidase B. Identification of Glu-355 at the substrate site. J. Biol. Chem. 270, 23693-23699.
50. Pennybacker, M., Schuette, C.G., Liessem, B., Hepbildikler, S.T., Kopetka, J.A., Ellis, M.R., Meyrowitz, R., Sandhoff, K. & Proia, R.L. (1997) Evidence for the involvement of Glu-355 in the catalytic action of β-hexosaminidase B. J. Biol. Chem. 272, 8002-8006.
51. Fernandes, M.J., Yew, S., Leclerc, D., Henrissat, B., Vorgias, C.E., Gravel, R.A., Hechtman, P. & Kaplan, F. (1997) Identification of candidate active site residues in lysosomal β-hexosaminidase A. J. Biol. Chem. 272, 814-820.
52. DeGasperi, R., Gama Sosa, M.A., Grebner, E.E., Mansfield, D., Battistini, S., Sartorato, E.L., Raghavan, S.S., Davis, J.G. & Kolodny, E.H. (1995) Substitution of alanine 543 with threonine residue at the carboxy terminal end of the β-chain is associated with thermolabile hexosaminidase B in a Jewish family of oriental ancestry. Biochem. Mol. Med. 56, 31-36.
53. Arciuch, L.P., Arciszewski, K., Zwierz, K., Bielecki, D.A. & Poiudniewski, G. (1998) Isoenzymes of placental N-acetyl-β-hexosaminidase in pregnancy complicated by EPH gestosis. Proc. XXXIV Meeting of the Polish Biochemical Society, Białystok, G-20, p. 116 (in Polish).
54. Besley, G.T.N. & Broadhead, D.M. (1976) Studies on human N-acetyl-β-D-hexosaminidase C separated from neonatal brain. Biochem. J. 155, 205-208.
55. Poenaru, L. & Dreyfus, J.C. (1973) Electrophoretic study of hexosaminidases: Hexosaminidase C. Clin. Chim. Acta 43, 439-446.
56. Penton, E., Poenaru, L. & Dreyfus, J.C. (1975) Hexosaminidase C in Tay-Sachs and Sandhoff disease. Biochim. Biophys. Acta 391, 162-169.
57. Swallow, D.M., Evans, L., Sala, E.N. & Harris, H. (1976) Characterization and tissue distribution of N-acetylhexosaminidase C: Suggestive evidence for a separate hexosaminidase locus. Ann. Hum. Genet. 40, 55-66.
58. Kärkkäinen, P., Poikolainen, K. & Salaspuro, M. (1990) Serum β-hexosaminidase as a marker of heavy drinking. Alcoholism: Clin. Exp. Res. 14, 187-190.
59. Ostrowska, L., Zwierz, K., Koniusz, Z. & Gindzieński, A. (1993) Function, properties and clinical significance of N-acetyl-β-hexosaminidase. Post. Hig. Med. Dośw. 47, 67-79 (in Polish).
60. Oberkotter, L.V., Kern, R. & Koldovsky, O. (1980) Effects of cortisone and thyroxine on suckling rat liver N-acetyl-β-glucosaminidase isozymes. Comparison with adult reactivity. Biochim. Biophys. Acta 630, 279-286.
61. Elsafi, M.E., Hultberg, B., Isaksson, A., Hägerstrand, J., Prytz, H. & Stenram, U. (1994) Lysosomes and human liver disease: A biochemical and immunohistochemical study of β-hexosaminidase. Eur. J. Clin. Chem. Clin. Biochem. 32, 669-673.
62. Hultberg, B., Isaksson, A., Berglund, M. & Moberg, A.-L. (1991) Serum β-hexosaminidase isoenzyme: A sensitive marker for alcohol abuse. Alcoholism: Clin. Exp. Res. 15, 549-552.
63. Wehr, H., Czartoryska, B. & Milewski, B. (1995) Serum β-hexosaminidase activity in hepatic diseases of alcoholic and non-alcoholic origin. Wiad. Lek. 48, 91-95 (in Polish).
64. Hultberg, B., Isaksson, A., Berglund, M. & Ailing, C. (1995) Increases and time-course variations in β-hexosaminidase isoenzyme B and carbohydrate-deficient transferrin in serum from alcoholics are similar. Alcoholism: Clin. Exp. Res. 19, 452-456.
65. Hultberg, B., Isaksson, A., Lindgren, A., Israelsson, B. & Brattström, L. (1996) Plasma β-hexosaminidase isoenzymes A and B in patients with cerebral infarction. Clin. Chim. Acta 224, 35-44.
66. Hultberg, B. & Isaksson, A. (1983) Isoenzyme pattern of serum β-hexosaminidase in liver disease, alcohol intoxication and pregnancy. Enzyme 30, 166-171.
67. Orlacchio, A., Martino, S., Sarchielli, P., Gallai, V. & Emiliani, C. (1998) β-N-Acetylhexosaminidase in peripheral blood lymphocytes and monocytes in the different forms and stages of multiple sclerosis. J. Neurochem. 71, 1168-1176.
68. Hultberg, B., Isaksson, A., Nilsson, J.A. & Fidgarde, F. (1994) Serum β-hexosaminidase isoenzymes are related to risk factors for atherosclerosis in a large population of postmenopausal women. Clin. Chim. Acta 227, 59-68.
69. Schmidt, H., Mall, A. & Bockhorn, H. (1986) Catalytic activity of alkaline phosphatase and N-acetyl-β-hexosaminidase in human cortical segments: Heterogenous changes in acute renal failure and acute rejection following kidney allotransplantation. J. Clin. Chem. Clin. Biochem. 24, 961-970.
70. Bernard, A., Thielemans, N., Roels, H. & Lauwerys, R. (1995) Association between NAG-B and cadmium in urine with no evidence of a threshold. Occup. Environ. Med. 52, 177-180.
71. Bourbouze, R., Gluckman, J.-C., Frantz, P., Paraire, M., Baumann, F.Ch., Luciani, J., Percheron, F. & Legrain, M. (1985) Early monitoring of human renal transplantations by N-acetyl-β-D-glucosaminidase isoenzyme activities in urine. Clin. Chim. Acta 149, 185-195.
72. Biernacka, A. & Zoch-Zwierz, W. (1997) "Proximal tubular proteinuria" in children with fever caused by respiratory tract infections. Ped. Pol. 72, 343-351 (in Polish).
73. Winiecka, W. & Zoch-Zwierz, W. (1991) An evaluation of the nephrotic action of Uropolin on children with nycturia. Przegl. Lek. 48, 218-220 (in Polish).
74. Zoch-Zwierz, W., Winiecka, W., Tomaszewska, B. & Wierciński, R. (1992) Assessment of N-acetyl-beta-D-glucosaminidase (NAG) and its isoenzymes in urine of children with essential and secondary hypertension. Wiad. Lek. 45, 498-502 (in Polish).
75. Zoch-Zwierz, W. (1990) The activity of N-acetyl-beta-D-glucosaminidase (NAG) and that of its isoenzymes in urine of children with acute urinary tract infection. Ped. Pol. 65, 43-47 (in Polish).
76. Tomaszewska, B. & Zoch-Zwierz, W.M. (1995) Renal tubular toxicity of cytostatics in children with acute lymphoblastic leukemia. Ped. Pol. 70, 915-920 (in Polish).
77. Severini, G., Alibertti, L.M. & DiGirolamo, M. (1988) N-Acetyl-β-glucosaminidase isoenzymes in serum and urine in patients with Diabetes mellitus. Clin. Chem. 34, 2430-2432.
78. Weber, A., Poenaru, L., Lafarge, Ch. & Schapira, F. (1973) Modification of hexosaminidase isozymes in rat hepatoma. Cancer Res. 33, 1925-1930.
79. Brattain, M.G., Kimball, P.M. & Pretlow, T.G. (1977) β-Hexosaminidase isoenzymes in human colonic carcinoma. Cancer Res. 37, 731-735.
80. Bhuvarahamurthy, V. & Govindsamy, S. (1996) Purification and characterization of hexosaminidase from human uterine cervical carcinoma. Gynecol. Oncol. 60, 188-196.
81. Chatterjee, S.K., Chowdhury, K., Bhattarya, M. & Barlow, J.L. (1982) β-Hexosaminidase activities and isoenzymes in normal human ovary and ovarian carcinoma. Cancer 49, 128-135.
82. Lo, C.H. & Kritchevsky, D. (1978) Human serum hexosaminidases: Elevated B form isoenzyme in cancer patients. J. Med. 9, 313-336.
83. Martino, S., Emiliani, C., Tabilio, A., Falzetti, F., Stirling, J.L. & Orlacchio, A. (1997) Distribution of active α- and β-subunits of β-hexosaminidase as a function of leukemic cell types. Biochim. Biophys. Acta 1335, 5-15.