A variant serum cholinesterase and a confirmed point mutation at Gly-365 to Arg found in a patient with liver cirrhosis

Intern Med. 1992 Mar;31(3):357-62. doi: 10.2169/internalmedicine.31.357.

Abstract

A 64-year-old man was admitted to our hospital because of possible liver cirrhosis. His serum cholinesterase was anomalously low with a delta pH of 0.1 (normal range; 0.8-1.1). His enzyme was more heat-labile than the normal controls. Km value of his enzyme for benzoylcholine was 1.1 x 10(-5) mol/l, while that for normal controls was 2.3 x 10(-6) mol/l. In addition, isozymic alteration of his enzyme was observed. Sequencing of the white blood cell DNA of the patient showed a point mutation at nucleotide 1093 (GGA to CGA), which changes codon 365 from glycine to arginine.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Cholinesterases / blood
  • Cholinesterases / genetics*
  • Cholinesterases / immunology
  • DNA / genetics
  • Genetic Variation
  • Humans
  • Immunochemistry
  • Isoenzymes / blood
  • Isoenzymes / genetics*
  • Isoenzymes / immunology
  • Kinetics
  • Liver Cirrhosis / enzymology*
  • Liver Cirrhosis / genetics
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation
  • Polydeoxyribonucleotides / genetics
  • Polymerase Chain Reaction

Substances

  • Isoenzymes
  • Polydeoxyribonucleotides
  • DNA
  • Cholinesterases