Thermodynamic characterisation of the mutated isoenzyme A of beta-N-acetylhexosaminidase in GM2-gangliosidosis B1 variant

Clin Chim Acta. 1999 Jul;285(1-2):45-51. doi: 10.1016/s0009-8981(99)00086-8.

Abstract

Here we report the determination of the activation energies of the plasma isoenzymes of beta-N-acetylhexosaminidase (Hex, EC 3.2.1.52), isolated by chromatography in DEAE-cellulose, using the neutral chromogenic substrate 3,3'dichlorophenylsulfonphthaleinyl-N-acetyl-beta-D-glucosaminide. The activation energy of mutated Hex A isoenzyme (Ea approximately 71.5 kJ/mol) from a patient with GM2-gangliosidosis B1 variant, homozygote for the G533-->A (Arg178His) mutation, was significantly higher than that of normal Hex A (Ea approximately 41.8 kJ/mol) and analogous to that of Hex B isoenzyme (Ea approximately 75.1 kJ/mol). The determination of this thermodynamic variable of Hex in different biological specimens could allow for a straightforward biochemical characterisation of the GM2-gangliosidosis B1 variant.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Chromatography, DEAE-Cellulose
  • Female
  • Gangliosidoses / enzymology*
  • Gangliosidoses / genetics
  • Hexosaminidase A
  • Hexosaminidase B
  • Homozygote
  • Humans
  • Isoenzymes / genetics
  • Isoenzymes / metabolism*
  • Point Mutation*
  • Thermodynamics
  • beta-N-Acetylhexosaminidases / genetics
  • beta-N-Acetylhexosaminidases / metabolism*

Substances

  • Isoenzymes
  • Hexosaminidase A
  • Hexosaminidase B
  • beta-N-Acetylhexosaminidases