A Variant Serum Cholinesterase and a Confirmed Point Mutation at Gly-365 to Arg Found in a Patient with Liver Cirrhosis

Toshikazu HADA; Koji MURATANI; Toru OHUE; Hiroyasu IMANISHI; Yuji MORIWAKI; Masami ITOH; Yoshiki AMURO; Kazuya HIGASHINO

doi:10.2169/internalmedicine.31.357

Toshikazu HADA, Koji MURATANI, Toru OHUE, Hiroyasu IMANISHI, Yuji MORIWAKI, Masami ITOH, Yoshiki AMURO, Kazuya HIGASHINO

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Keywords: cholinesterase isozyme, nearly silent cholinesterase variant, gene analysis

JOURNAL FREE ACCESS

1992 Volume 31 Issue 3 Pages 357-362

DOI https://doi.org/10.2169/internalmedicine.31.357

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Abstract

A 64-year-old man was admitted to our hosiptal because of possible liver cirrhosis. His serum cholinesterase was anomalously low with a ΔpH 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 1.1×10^-5 mol/l, while that for normal controls was 2.3× 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.
(Internal Medicine 31 : 357-362, 1992)

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