Isolation and structural characterization of sialic acid-containing storage material from mucolipidosis I (sialidosis) fibroblasts.
Sialic acid-containing storage material was isolated from cultured human mucolipidosis I (sialidosis) fibroblasts by gel permeation chromatography on Bio-Gel P-6 followed by medium-pressure anion-exchange chromatography on Mono Q. The structure determination of the isolated sialyloligosaccharides was carried out by 500-MHz 1H-NMR spectroscopy in conjunction with sugar analysis and analytical HPLC. The storage material showed completely sialylated mono-, di- and triantennary N-glycosidic N-acetyllactosamine oligosaccharides having the Man beta 1----4GlcNAc sequence at the reducing end in common. Heterogeneity occurred with respect to the linkages between terminal sialic acid and the penultimate galactose residues (alpha 2----3/alpha 2----6). It turned out that all the identified carbohydrate chains are consistent with the neuraminidase deficiency.
van Pelt
J
J
Department of Bio-Organic Chemistry, Utrecht University, The Netherlands.
Kamerling
J P
JP
Vliegenthart
J F
JF
Verheijen
F W
FW
Galjaard
H
H
D002236:Carbohydrate Conformation; D002240:Carbohydrate Sequence; D002241:Carbohydrates / Q000032:analysis; D002850:Chromatography, Gel; D002851:Chromatography, High Pressure Liquid; D002852:Chromatography, Ion Exchange; D005347:Fibroblasts / Q000032:analysis*; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008969:Molecular Sequence Data; D009081:Mucolipidoses / Q000378:metabolism*; D009439:Neuraminidase / Q000172:deficiency; D009844:Oligosaccharides / Q000302:isolation & purification*
D002241:Carbohydrates; D009844:Oligosaccharides; C016735:sialooligosaccharides; D009439:Neuraminidase