A variant serum cholinesterase and a confirmed point mutation at Gly-365 to Arg found in a patient with liver cirrhosis.
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.
Hada
T
T
Third Department of Internal Medicine, Hyogo College of Medicine, Japan.
Muratani
K
K
Ohue
T
T
Imanishi
H
H
Moriwaki
Y
Y
Itoh
M
M
Amuro
Y
Y
Higashino
K
K
D000595:Amino Acid Sequence; D001483:Base Sequence; D002802:Cholinesterases / Q000097:blood / Q000235:genetics* / Q000276:immunology; D004247:DNA / Q000235:genetics; D014644:Genetic Variation; D006801:Humans; D007120:Immunochemistry; D007527:Isoenzymes / Q000097:blood / Q000235:genetics* / Q000276:immunology; D007700:Kinetics; D008103:Liver Cirrhosis / Q000201:enzymology* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D011089:Polydeoxyribonucleotides / Q000235:genetics; D016133:Polymerase Chain Reaction
D007527:Isoenzymes; D011089:Polydeoxyribonucleotides; D004247:DNA; D002802:Cholinesterases