PMID: 8581357Apr 1, 1995Paper

GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A

Biochemical and Molecular Medicine
L PelegB Goldman

Abstract

The biochemical properties of hexosaminidase A (HexA) and the coding sequence of the alpha-subunit were examined in a patient of Syrian ancestry with the B1 form of Tay-Sachs disease (TSD). The biochemical characteristics of the variant HexA suggest that both active sites are affected by the mutation(s). Kinetic studies with the beta-subunit specific substrate, 4-methylumbelliferyl-beta-D-N-acetylglucosamine (MUG), revealed a significant difference between the Km values. of normal and variant HexA, while no difference was found when the sulfated substrate MUG-6-sulfate (MUGS), which is specific for the alpha-subunit active site, was used. The Vmax values for both substrates were significantly lower in extracts from B1 variant cells than in control extracts, implying a reduced enzyme level in the variant cells. A noncompetitive inhibitor of the reaction with MUGS, N-acetylglucosamine (NAG), induced a significant inhibition (30%) in the mutant cells only. When MUG was used as substrate, variant HexA was found to be more heat stable (T50 = 170 min) than normal HexA (T50 = 65 min). Furthermore, the mutant cell preparation differed from control in the relation between Hex thermosensitivity and protein concentration in the reaction. ...Continue Reading

Citations

May 21, 2008·Molecular Genetics and Metabolism·Kazuki OhnoHitoshi Sakuraba
Mar 26, 2003·Pediatrics International : Official Journal of the Japan Pediatric Society·Incilay SiniciGönenç Ciliv
Jul 21, 2004·Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas·J C Tutor
Nov 21, 2017·Translational Science of Rare Diseases·Carlos R Ferreira, William A Gahl
Aug 2, 2019·Molecular Genetics and Metabolism Reports·Li OuJeanine R Jarnes-Utz
Nov 26, 1999·Biochimica Et Biophysica Acta·D J Mahuran

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