Human lysosomal beta-hexosaminidases are dimeric enzymes composed of alpha and beta-chains, encoded by the genes HEXA and HEXB. They occur in three isoforms, the homodimeric hexosaminidases B (betabeta) and S (alphaalpha), and the heterodimeric hexosaminidase A (alphabeta), where dimerization is required for catalytic activity. Allelic variations in the HEXA and HEXB genes cause the fatal inbor...

Tay-Sachs disease is a prototypic neurodegenerative disease. Lysosomal storage of GM2 ganglioside in Tay-Sachs and the related disorder, Sandhoff disease, is caused by deficiency of beta-hexosaminidase A, a heterodimeric protein. Tay-Sachs-related diseases (GM2 gangliosidoses) are incurable, but gene therapy has the potential for widespread correction of the underlying lysosomal defect by means...

Tay-Sachs disease is an autosomal recessive neurodegenerative disorder occurring due to impaired activity of β-hexosaminidase-A (EC 3.2.1.52), resulting from the mutation in HEXA gene. Very little is known about the molecular pathology of TSD in Indian children except for a few mutations identified by us. The present study is aimed to determine additional mutations leading to Tay-Sachs disease ...

Pulse-chase experiments had shown that @-hexosaminidase was synthesized in cultured human fibroblasts in precursor form and that during maturation of the enzyme the a-chains were converted from Mr = 67,000 to 54,000 and the /&chains from M, = 63,000 to 29,000 plus smaller fragments, probably through an intermediate form of M, = 52,000 (Hasilik, A., and Neufeld, E. F. (1980) J. Biol. Chem. 255,4...

Specific activities of seven acid glycosidases: beta-hexosaminidase, alpha- and beta-galactosidase, alpha- and beta-mannosidase, alpha-glucosidase and alpha-fucosidase were determined in various parts of the domestic hen oviduct (infundibulum, isthmus, shell gland and vagina). The activity of most enzymes was the highest in the isthmus. Multiple forms of all acid glycosidases from the isthmus w...

We investigated Candida albicans-induced mast cell degranulation in vitro and in vivo. Cell wall fraction but not culture supernatant and cell membrane fraction prepared from hyphally grown C. albicans induced β-hexosaminidase release in RBL-2H3 cells. Cell wall mannan and soluble β-glucan fractions also induced β-hexosaminidase release. Histological examination of mouse forestomach showed that...

Hexosaminidase, alpha-mannosidase, beta-galactosidase, beta-glucuronidase, and arylsulphatase A were measured inperitoneal and pleural effusions from patients with benign, malignant, and inflammatory disorders. Compared with the benign transudates, all enzyme activities were moderately elevated in malignant effusions and markedly elevated in inflammatory effusions. The assay of hexosaminidase a...

In the previous study, pickle-derived Lactiplantibacillus plantarum 22A-3 (LP22A3) suppressed ear edema in passive cutaneous anaphylaxis by its oral administration. Moreover, LP22A3 treatment directly to RBL-2H3 cells shows no effect on β-hexosaminidase release from but inhibited using Caco-2/RBL-2H3 co-culture system stimulated with apical side. this administration of decreased total IgE and o...

Human hexosaminidase A was covalently bound to soluble poly(N-vinylpyrrolidone), and the effect of this binding on the enzyme inactivation by various procedures was investigated. Whereas the polymer-bound hexosaminidase underwent inactivation to the same extent as the free enzyme, when exposed to heat or acidic pH, the conjugation to polymer appeared to protect the enzyme towards proteolysis. T...

Sandhoff disease is a neurodegenerative disease caused due to deficiency of hexosaminidase (HEX) A and B. A 1-year-old male child presented with regression of milestones, exaggerated startle response, decreased vision, and seizures from 6 months of age. The child had coarse facies without hepatosplenomegaly. Serum levels of β hexosaminidase total (A + B) were low. Genetic testing for Sandhoff d...