Hexosaminidase C in brain affected by Tay-Sachs Disease.
Hexosaminidase (Hex) C could be detected in human brains by DEAE cellulose column chromatography, when N-acetyl-beta-D-glucosaminidase activity was determined at pH 5.5. In the chromatographic pattern, the peak of Hex C was always higher than that of Hex A in control prenatal brains and conversely lower in postnatal brains. Hex C was not detected in the brains obtained from two cases of Tay-Sachs disease. In addition, the content of Hex C in the brains of two other Tay-Sachs cases was lower than that of the control. The observation suggests that the absence or reduction of Hex C may have some relation with biochemical defects in Tay-Sachs disease, although Hex C does not share common subunit structures with Hex A and the role of Hex C with respect to GM2-ganglioside degradation remains unknown yet.
D001921:Brain / Q000201:enzymology*; D002675:Child, Preschool; D002846:Chromatography, Affinity; D002852:Chromatography, Ion Exchange; D005333:Fetus / Q000201:enzymology; D006596:Hexosaminidases / Q000032:analysis*; D006801:Humans; D013661:Tay-Sachs Disease / Q000201:enzymology*
D006596:Hexosaminidases