Spontaneous mucolipidosis in a cat: An animal model of human I-cell disease

Veterinary Pathology

Volumn 33, Issue 1, 1996, Pages 1-13

  Bosshard, N U ^a   Hubler, M ^a   Arnold, S ^a   Briner, J ^a   Spycher, M A ^a   Sommerlade, H J ^b   Von Figura, K ^b   Gitzelmann, R ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

Animal model; Cats; I cell disease; Lysosomal storage disease; Mucolipidosis

Indexed keywords

ANIMALIA; FELIS CATUS;

GLYCOSAMINOGLYCAN; PHOSPHOTRANSFERASE; UDP-N-ACETYLGLUCOSAMINE-LYSOSOMAL-ENZYME-N-ACETYLGLUCOSAMINEPHOSPHOTRANSFERASE; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE LYSOSOMAL ENZYME N ACETYLGLUCOSAMINEPHOSPHOTRANSFERASE;

ANIMAL; ANIMAL DISEASE; AORTA; ARTICLE; BODY CONSTITUTION; BONE; CASE REPORT; CAT; CAT DISEASE; CHEMISTRY; DISEASE MODEL; FEMALE; GAIT; GROWTH, DEVELOPMENT AND AGING; KIDNEY; LEUKOCYTE; LIVER; METABOLISM; MUCOLIPIDOSIS; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY; RADIOGRAPHY; RETINA DEGENERATION; SCIATIC NERVE; SKIN; ULTRASTRUCTURE; URINE;

ANIMALS; AORTA; BODY CONSTITUTION; BONE AND BONES; CAT DISEASES; CATS; DISEASE MODELS, ANIMAL; FEMALE; GAIT; GLYCOSAMINOGLYCANS; KIDNEY; LEUKOCYTES; LIVER; MUCOLIPIDOSES; RETINAL DEGENERATION; SCIATIC NERVE; SKIN; TRANSFERASES (OTHER SUBSTITUTED PHOSPHATE GROUPS); URIDINE DIPHOSPHATE N-ACETYLGLUCOSAMINE;

EID: 0029681136     PISSN: 03009858     EISSN: None     Source Type: Journal    
DOI: 10.1177/030098589603300101     Document Type: Article

References (39)

1. Aerts JMFG, Schram AW, Strijland A, van Weely S, Jonsson LMV, Tager JM, Sorrell SH, Ginns EI, Barranger JA, Murray GJ: Glucocerebrosidase, a lysosomal enzyme that does not undergo oligosaccharide phosphorylation. Biochim Biophys Acta 964:303-308, 1988
2. Ben-Yoseph Y, Baylerian MS, Nadler HL: Radiometric assay of N-acetylglucosaminylphosphotransferase and α-N-acetylglucosaminyl phosphodiesterase with substrates labeled in the glucosamine moiety. Anal Biochem 142:297-304, 1984
3. Ben-Yoseph Y, Mitchell DA, Yager RM, Wei JT, Chen TH, Shih LY: Mucolipidoses II and III variants with normal N-acetylglucosamine 1-phosphotransferase activity toward α-methylmannoside are due to nonallelic mutations. Am J Hum Genet 50:137-144, 1992
4. Fishman WH, Goldman SS, DeLellis R: Dual localization of β-glucuronidase in endoplasmic reticulum and in lysosomes. Nature 213:457-460, 1967
5. Galjaard H: Genetic Metabolic Diseases. Early Diagnosis and Prenatal Analysis. Elsevier/North-Holland Biomedical Press, Amsterdam, The Netherlands, 1980
6. Gitzelmann R, Bosshard NU, Superti-Furga A, Spycher MA, Briner J, Wiesmann U, Lutz H, Litschi B: Feline mucopolysaccharidosis VII due to β-glucuronidase deficiency. Vet Pathol 31:435-443, 1994
7. Glaser JH, McAlister WH, Sly WS: Genetic heterogeneity in multiple lysosomal hydrolase deficiency. J Pediatr 85:192-198, 1974
8. Gusina NB, Tsukerman GL: AKTHBHOCTH BHSOCOMHEIX raapojiaa miasMbi H JICHKOIIHTOB y FOMO- H reieposHroT C pa3JIHHHEÏMH BapHEHTaMH I-KJleTOHHOH OOJKSHH. [Activity of lysosomal hydrolases in plasma and leukocytes in homo- and heterozygotes with different variants of I-cell disease.] Vopr Med Khim 34:21-25, 1988
9. Haskins ME, Patterson DF: Inherited metabolic diseases. In: Diseases of the Cat, ed. Holzworth J, pp. 808-819. WB Saunders, London, England, 1987
10. Herd JK, Dvorak AD, Wiltse HE, Eisen JD, Kress BC, Miller AL: Mucolipidosis type III. Multiple elevated serum and urine enzyme activities. Am J Dis Child 132: 1181-1186, 1978
11. Hodges TK, Leonard RT: Purification of a plasma membrane-bound adenosine triphosphatase from plant roots. Methods Enzymol. 32:392-406, 1974
12. Holmes EW, Miller AL, Frost RG, O'Brien JS: Characterization of β-D-galactosidase isolated from I-cell disease liver. Am J Hum Genet 27:719-727, 1975
13. Kelly TE, Thomas GH, Taylor HA Jr, McKusick VA, Sly WS, Glaser JH, Robinow M, Luzzatti L, Espiritu C, Feingold M, Bull MJ, Ashenhurst EM, Ives EJ: Mucolipidosis III (pseudo-Hurler polydystrophy): clinical and laboratory studies in a series of 12 patients. Johns Hopkins Med J 137:156-175, 1975
14. Leroy JG: The oligosaccharidoses. In: Principles and Practice of Medical Genetics, ed. Emery AEH, Rimoin DL, vol. 2, pp. 1807-1826. Churchill Livingstone, Edinburgh, UK, 1990
15. Leroy JG, Ho MW, MacBrinn MC, Zielke K, Jacob J, O'Brien JS: I-cell disease: biochemical studies. Pediatr Res 6:752-757, 1972
16. Leroy JG, Wiesmann U: Disorders of lysosomal enzymes. In: Connective Tissue and its Heritable Disorders - Molecular, Genetic, and Medical Aspects, ed. Royce PM, Steinmann B, pp. 613-639. Wiley-Liss, New York, New York, 1993
17. Liebaers I, Neufeld EF: Iduronate sulfatase activity in serum, lymphocytes, and fibroblasts - simplified diagnosis of the Hunter syndrome. Pediatr Res 10:733-736, 1976
18. Little L, Alcouloumre M, Drotar AM, Herman S, Robertson R, Yeh RY, Miller AL: Properties of N-acetyl-glucosamine 1-phosphotransferase from human lymphoblasts. Biochem J 248:151-159, 1987
19. Martin JJ, Leroy JG, Farriaux JP, Fontaine G, Desnick RJ, Cabello A: I-cell disease (mucolipidosis II). A report on its pathology. Acta Neuropathol (Berl) 33:285-305, 1975
20. Martin JJ, Leroy JG, van Eygen M, Ceuterick C: I-cell disease. A further report on its pathology. Acta Neuropathol (Berl) 64:234-242, 1984
21. Mueller OT, Honey NK, Little LE, Miller AL, Shows TB: Mucolipidosis II and III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis. J Clin Invest 72:1016-1023, 1983
22. Mueller OT, Little LE, Miller AL, Lozzio CB, Shows TB: I-cell disease and pseudo-Hurler polydystrophy: heterozygote detection and characteristics of the altered N-a-cetylglucosamine-phosphotransferase in genetic variants. Clin Chim Acta 150:175-183, 1985
23. Nolan CM, Sly WS: I-cell disease and pseudo-Hurler polydystrophy: disorders of lysosomal enzyme phosphorylation and localization. In: The Metabolic Basis of Inherited Disease, ed. Scriver CR, Beaudet AL, Sly WS, and Valle D, 6th ed., vol. 2, pp. 1589-1601. McGraw-Hill, New York, New York, 1989
24. Okada S, Owada M, Sakiyama T, Yutaka T, Ogawa M: I-cell disease: clinical studies of 21 Japanese cases. Clin Genet 28:207-215, 1985
25. Owada M, Neufeld EF: Is there a mechanism for introducing acid hydrolases into liver lysosomes that is independent of mannose 6-phosphate recognition? Evidence from I-cell disease. Biochem Biophys Res Commun 105:814-820, 1982
26. Paigen K: The effect of mutation on the intracellular location of β-glucuronidase. Exp Cell Res 25:286-301, 1961
27. Peters C, Braun M, Weber B, Wendland M, Schmidt B, Pohlmann R, Waheed A, von Figura K: Targeting of a lysosomal membrane protein: a tyrosine-containing endocytosis signal in the cytoplasmic tail of lysosomal acid phosphatase is necessary and sufficient for targeting to lysosomes. EMBO J 9:3497-3506, 1990
28. Reitman ML, Lang L, Kornfeld S: UDP-N-acetylglucosamine: lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. Methods Enzymol 107:163-172, 1984
29. Rome LH, Garvin AJ, Allietta MM, Neufeld EF: Two species of lysosomal organelles in cultured fibroblasts. Cell 17:143-153, 1979
30. Sommerlade HJ, Hille-Rehfeld A, von Figura K, Gieselmann V: Four monoclonal antibodies inhibit the recognition of arylsulphatase A by the lysosomal enzyme phosphotransferase. Biochem J 297:123-130, 1994
31. Thomas GH, Taylor HA, Reynolds LW, Miller CS: Mucolipidosis III (pseudo-Hurler polydystrophy): multiple lysosomal enzyme abnormalities in serum and cultured fibroblast cells. Pediatr Res 7:751-756, 1973
32. Tsuji A, Omura K, Zuzuki Y: Intracellular transport of acid α-glucosidase in human fibroblasts: evidence for involvement of phosphomannosyl receptor-independent system. J Biochem 104:276-278, 1988
33. Varki AP, Reitman ML, Kornfeld S: Identification of a variant of mucolipidosis III (pseudo Hurler polydystrophy): a catalytically active N-acetylglucosaminyl-phosphotransferase that fails to phosphorylate lysosomal enzymes. Proc Natl Acad Sci USA 78:7773-7777, 1981
34. Varki A, Reitman ML, Vannier A, Kornfeld S, Grubb JH, Sly WS: Demonstration of the heterozygous state for I-cell disease and pseudo-Hurler polydystrophy by assay of N-acetylglucosaminylphosphotransferase in white blood cells and fibroblasts. Am J Hum Genet 34: 717-729, 1982
35. Verdon B, Berger EG: Galactosyltransferase. UDPgalactose: 2-acetamido-2-deoxy-β-D-glucopyranosyl-glycopeptide galactose β(1-4) transferase (EC 2.4.1.38). UDPgalactose : glucopyranose galactose β(1-4) transferase (EC 2.4.1.22). In: Methods of Enzymatic Analysis, ed. Bergmeyer HU, 3rd ed., vol. 3, pp. 374-381. Verlag Chemie, Weinheim, Germany, 1983
36. Waheed A, Hasilik A, von Figura K: UDP-N-acetylglucosamine : lysosomal enzyme precursor N-acetylglucosamine 1-phosphotransferase: partial purification and characterization of rat liver Golgi enzyme. J Biol Chem 257:12322-12331, 1982
37. Waheed A, Pohlmann R, Hasilik A, von Figura K, van Elsen A, Leroy JG: Deficiency of UDP-N-acetylglucosamine : lysosomal enzyme N-acetylglucosamine-1-phosphotransferase in organs of I-cell patients. Biochem Biophys Res Commun 105:1052-1058, 1982
38. Wiesmann U, Vassella F, Herschkowitz N: "I-cell" disease: leakage of lysosomal enzymes into extracellular fluids. N Engl J Med 285:1090-1091, 1971
39. Wyss SR, Koster JF, Hülsmann WC: Choice of leucocyte preparation in the diagnosis of glycogen storage disease type II (Pompe's disease). Clin Chim Acta 35:277-280, 1971