4-Trifluoromethylumbelliferyl glycosides as new substrates for revealing diseases connected with hereditary deficiency of lysosome glycosidases.
The following glycosides of 4-trifluoromethylumbelliferone: alpha-D-mannopyranoside, alpha-L-fucopyranoside, alpha-D-glucopyranoside, beta-D-glucopyranoside, alpha-D-galactopyranoside, beta-D-galactopyranoside, alpha-L-iduronide and beta-D-glucuronide were studied. 4-Trifluoromethylumbelliferyl glycosides were shown to be substrates for glycosidases. Some of them were cleaved even better than the corresponding methylumbelliferyl glycosides. 4-Trifluoromethylumbelliferyl glycosides were applied for revealing the corresponding enzyme deficiencies upon diagnosis of Gaucher and Hurler diseases as well as GM1 gangliosidosis and alpha-mannosidosis. 4-Trifluoromethylumbelliferone released after enzymatic hydrolysis of 4-trifluoromethylumbelliferyl glycosides exhibits more contrast yellow fluorescence in UV-light than the blue one of methylumbelliferone upon exposure of enzyme activity on solid supports. Therefore 4-trifluoromethylumbelliferyl glycosides are convenient substrates for revealing glycosidase activity directly in tissue samples, e.g. in placenta, and thus for fast prenatal diagnosis of lysosomal diseases.
Karpova
E A
EA
Institute of Biological and Medical Chemistry, USSR Academy of Medical Sciences, Moscow.
Voznyi YaV
Dudukina
T V
TV
Tsvetkova
I V
IV
D004796:Clinical Enzyme Tests; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis*; D006026:Glycoside Hydrolases / Q000172:deficiency*; D006027:Glycosides / Q000378:metabolism; D006801:Humans; D006923:Hymecromone / Q000031:analogs & derivatives* / Q000378:metabolism; D007962:Leukocytes / Q000201:enzymology; D008247:Lysosomes / Q000201:enzymology*; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008059:Mucopolysaccharidosis I / Q000175:diagnosis*
D006027:Glycosides; D006923:Hymecromone; D006026:Glycoside Hydrolases