Site-directed mutagenesis of K396R of the 65 kDa glutamic acid decarboxylase active site obliterates enzyme activity but not antibody binding

FEBS Lett. 2001 Jan 19;488(3):185-9. doi: 10.1016/s0014-5793(00)02429-7.

Abstract

The role of K396 in the enzymatic catalysis and the antigenicity of the 65 kDa isoform of glutamate decarboxylase (GAD65) was analyzed using the K396R GAD65 mutant. GAD65 is a major autoantigen in Type 1 diabetes and autoantibodies directed to GAD65 are widely used markers for this disease. We found that (1) recombinant human GAD65 is fully enzymatically active; (2) the K396R mutation abolished GAD65 activity; and (3) the K396R mutant retained full antigenicity to GAD65 autoantibodies in serum from Type 1 diabetes patients, but not to polyclonal antibodies raised to the catalytic domain.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Amino Acid Substitution / genetics*
  • Animals
  • Autoantibodies / immunology*
  • Autoantigens / chemistry
  • Autoantigens / genetics
  • Autoantigens / immunology
  • Autoantigens / metabolism
  • Binding Sites
  • Catalysis
  • Catalytic Domain / immunology
  • Diabetes Mellitus, Type 1 / immunology*
  • Glutamate Decarboxylase / chemistry
  • Glutamate Decarboxylase / genetics
  • Glutamate Decarboxylase / immunology*
  • Glutamate Decarboxylase / metabolism*
  • Humans
  • Hydrogen-Ion Concentration
  • Immune Sera / immunology
  • Isoenzymes / chemistry
  • Isoenzymes / genetics
  • Isoenzymes / immunology*
  • Isoenzymes / metabolism*
  • Kinetics
  • Molecular Sequence Data
  • Molecular Weight
  • Mutagenesis, Site-Directed / genetics*
  • Mutation / genetics
  • Pichia / genetics
  • Pyridoxal Phosphate / metabolism
  • Radioimmunoassay
  • Recombinant Proteins / biosynthesis
  • Recombinant Proteins / chemistry
  • Recombinant Proteins / immunology
  • Recombinant Proteins / metabolism
  • Reducing Agents / metabolism
  • Transformation, Genetic

Substances

  • Autoantibodies
  • Autoantigens
  • Immune Sera
  • Isoenzymes
  • Recombinant Proteins
  • Reducing Agents
  • Pyridoxal Phosphate
  • Glutamate Decarboxylase
  • glutamate decarboxylase 2