Intracellular degradation of sulforhodamine-GM1: Use for a fluorescence-based characterization of GM2-gangliosidosis variants in fibroblasts and white blood cells

Clinica Chimica Acta

Volumn 247, Issue 1-2, 1996, Pages 105-120

  Agmon, Vered ^a   Khosravi, Rami ^b,c   Marchesini, Sergio ^d   Dinur, Tama ^a   Dagan, Arie ^a   Gatt, Shimon ^a   Navon, Ruth ^b,c  

^a HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c MEIR MEDICAL CENTER   (Israel)

^d UNIVERSITY OF BRESCIA   (Italy)

Author keywords

Fluorescent GM1 ganglioside; GM2 ganglioside; GM2 gangliosidosis; Lipid storage diseases; Tay Sachs disease; N acetyl hexosaminidase A

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE; FLUORESCENT DYE; SULFORHODAMINE DERIVATIVE; SULFORHODAMINE GANGLIOSIDE GM1; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; FLUORESCENCE; GENOTYPE; GM2 GANGLIOSIDOSIS; HUMAN; HUMAN CELL; LEUKOCYTE; MUTATION; PRIORITY JOURNAL; SKIN FIBROBLAST;

CELL LINE; FIBROBLASTS; FLUORESCENCE; G(M1) GANGLIOSIDE; GANGLIOSIDOSES; HUMANS; LEUKOCYTES; MUTATION; RHODAMINES; TAY-SACHS DISEASE;

EID: 0029670551     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/0009-8981(96)85130-8     Document Type: Article

References (27)

1. M2 gangliosidosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular basis of inherited disease, 7th ed. New York: McGraw-Hill, 1995;2839-2879.
2. Neufeld EF. Natural history and inherited disorders of a lysosomal enzyme, β-hexosaminidase. J Biol Chem 1989;264:10927-10930.
3. M2 gangliosidoses among Jews and non-Jews. In: Bonne-Tamir B, Adam A, eds. Genetic diversity among Jews. Diseases and markers at the DNA level. Oxford: Oxford University Press 1992; 97-103.
4. Navon R, Argov Z, Frisch A. Hexosaminidase A deficiency in adults. Am J Med Genet 1986;24:179-196.
5. M2-gangliosidosis. Hexosaminidase mutations not of Tay-Sachs type produce unusual clinical variants. Trends Neurosci 1983;6:16-20.
6. M2 gangliosidosis and of healthy probands with low hexosaminidase level. Am J Hum Genet 1983;35:900-913.
7. Tallman JF, Drady RO, Navon R, Padeh B. Ganglioside catabolism in hexosaminidase A deficient adults. Nature 1974;252:254-255.
8. M2-Ganglioside metabolism in hexosaminidase A deficiency states: determination in situ using labeled GM2 added to fibroblasts cultures. Am J Hum Genet 1985;37:1071-1082.
9. M2 gangliosidosis subjects. Eur J Biochem 1985;149:247-255.
10. M2 as substrate. Biol Biophys Acta 1994;1199:215-223.
11. Leinekugel P, Michel S, Conzelmann E, Sandhoff K. Quantitative correlation between the residual activity of β-hexosaminidase A and arylsulfate A and the severity of the resulting lysosomal storage disease. Hum Genet 1992;88:513-523.
12. M1 ganglioside in cultured skin fibroblasts: anomalies in gangliosidoses, sialidoses, and sphingolipid activator protein (SAP, saponin) 1 and prosaposin-deficient disorders. Hum Genet 1992;89: 513-518.
13. M2 in cultured amniocytes by confocal laser scanning microscopy. Brain Dev 1993;15:278-282.
14. Agmon V, Dinur T, Cherbu S, Dagan A, Gatt S. Administration of pyrene lipids by receptor-mediated endocytosis and their degradation in skin fibroblasts. Exp Cell Res 1991;196:151-157.
15. Agmon V, Monti E, Dagan A, Preti A, Marchesini S, Gatt S. Fluorescence-based diagnosis of lipid storage diseases by analysis of the cultured medium of skin fibroblasts. Clin Chim Acta 1993;218:139-147.
16. Kaback MM. Thermal fractionation of serum hexosaminidase: application to heterozygote detection and diagnosis of Tay-Sachs diseases. Methods Enzymol 1972;28:862-867.
17. M2 gangliosidosis genotypes. Clin Chim Acta 1984;143:73-89.
18. M2 gangliosidosis in leukocytes. Clin Genet 1984;26:318-321.
19. Thomas GH. 'Pseudodeficiency' of lysosomal hydrolases. Am J Hum Genet 1994; 54:934-940.
20. Triggs-Raine BL, Mules EH, Kaback MM et al. A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implication for carrier screening. Am J Hum Genet 1992;51:793-801.
21. Cao Z, Natowicz MR, Kaback MM et al. A second mutation associated with apparent β-hexosaminidase A pseudodeficiency: identification and frequency estimation. Am J Hum Genet 1993;53:1198-1205.
22. M1-ganglioside: synthesis and physico-chemical properties. Chem Phys Lipids 1994;72:143-152.
23. Labarca C, Paigen K. A simple rapid and sensitive DNA assay procedure. Anal Biochem 1980;102:344-352.
24. Bohlen P, Stien S, Dairman W, Udenfriend S. Fluorometric assay of protein in the nanogram range. Arch Biochem Biophys 1973;155:213-220.
25. Triggs-Raine BL, Feigenbaum ASJ, Natowicz MR, et al. Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests. N Engl J Med 1990;323:6-12.
26. M2 gangliosidosis, the adult form of Tay-Sachs disease. Science 1989;243:1471-1474.
27. M2 gangliosidosis in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the α subunit of β-hexosaminidase. Proc Natl Acad Sci USA 1989;86:2413-2417.