Genetic analysis of a case of hereditary butyrylcholinesterase deficiency

DOI
  • JOO Kana
    Department of Clinical Laboratory, Kobe University Hospital
  • ARAKAWA Yuya
    Department of Medical Technology, Kansai University of Health Sciences
  • NOGUCHI Yoriko
    Department of Clinical Laboratory, Kobe University Hospital
  • OKAZAKI Yoko
    Department of Clinical Laboratory, Kobe University Hospital
  • SATO Itsuko
    Department of Clinical Laboratory, Kobe University Hospital
  • NAKAMACHI Yuji
    Department of Clinical Laboratory, Kobe University Hospital
  • HAYASHI Nobuhide
    Department of Clinical Laboratory, Kobe University Hospital
  • KAWANO Seji
    Division of Laboratory Medicine, Department of Internal Related, Kobe University Graduate School of Medicine

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Other Title
  • コリンエステラーゼ活性が極低値だった1症例の遺伝子解析

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Cholinesterases (ChEs) are enzymes that catalyze the hydrolysis of acetylcholine to choline and acetic acid. There are two types of cholinesterase, acetylcholinesterase (intrinsic AChE) and butyrylcholinesterase (pseudo-ChE or BChE). AChE hydrolyzes only acetylcholine. However, BChE, also known as pseudocholinesterase, is a nonspecific cholinesterase that hydrolyzes many different choline esters. BChE is generally used in reference to a clinical test that reflects the levels of ChE in the blood. An assay of BChE activity in the plasma can be used as a liver function test. Hereditary BChE deficiencies have been reported. Hydrolysis of succinylcholine, a muscle relaxant drug, is slow in patients with BChE deficiency. Therefore, BChE deficiency poses a risk of long-term apnea. We performed a genetic analysis in a patient with BChE deficiency. In the genetic analysis, we found an insert of homozygous A at codon 315 of Exon 2 of the BChE gene. Therefore, it was found that the stop codon is generated at codon 322 (p.Thr315Asnfsx7).

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