1981•The Tohoku Journal of Experimental MedicineOpen access

Hexosaminidase C in brain affected by Tay-Sachs disease.

Ryoji Minami, Fukumi Nakamura, Kazuhiko Oyanagi, Tooru Nakao

Abstract

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.

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Key concepts: Tay-Sachs disease, Hexosaminidase, Ganglioside, Protein subunit, Chemistry, Column chromatography, Enzyme, Biochemistry