Patients with prolonged effect of succinylcholine or mivacurium had novel mutations in the butyrylcholinesterase gene
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Patients with prolonged effect of succinylcholine or mivacurium had novel mutations in the butyrylcholinesterase gene. / Wichmann, Sine; Færk, Gitte; Bundgaard, Jens R.; Gätke, Mona R.
In: Pharmacogenetics and Genomics, Vol. 26, No. 7, 2016, p. 351-356.Research output: Contribution to journal › Journal article › Research › peer-review
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T1 - Patients with prolonged effect of succinylcholine or mivacurium had novel mutations in the butyrylcholinesterase gene
AU - Wichmann, Sine
AU - Færk, Gitte
AU - Bundgaard, Jens R.
AU - Gätke, Mona R.
PY - 2016
Y1 - 2016
N2 - Introduction Mutations in the butyrylcholinesterase enzyme (BChE) can result in prolonged duration of action of the neuromuscular blocking agents, succinylcholine and mivacurium, as BChE hydrolyses these drugs. Hereditary low BChE activity can cause extensively prolonged apnoea during general anaesthesia when these drugs are used. The aim of this study was to describe novel mutations in the butyrylcholinesterase gene (BCHE) in patients who have experienced prolonged duration of action of mivacurium or succinylcholine. Methods The Danish Cholinesterase Research Unit registers patients with prolonged duration of action to succinylcholine and mivacurium. Patients were studied if they had equivocal phenotypes on the basis of BChE activity, biochemical inhibitor reactions and with pedigree if possible. Complete nucleotide sequencing was performed to describe the genotype and pedigree was used to separate the alleles. Multiple sequence alignment of BChE was performed for comparison with other species. Results Genotyping indicated seven novel mutations in the BCHE (I373T, G467S, W518R, L184S, V421A, M462I and R577H). Conclusion We have found seven new variants of the BCHE, which seem to reduce the activity of BChE in patients undergoing anaesthesia involving succinylcholine or mivacurium.
AB - Introduction Mutations in the butyrylcholinesterase enzyme (BChE) can result in prolonged duration of action of the neuromuscular blocking agents, succinylcholine and mivacurium, as BChE hydrolyses these drugs. Hereditary low BChE activity can cause extensively prolonged apnoea during general anaesthesia when these drugs are used. The aim of this study was to describe novel mutations in the butyrylcholinesterase gene (BCHE) in patients who have experienced prolonged duration of action of mivacurium or succinylcholine. Methods The Danish Cholinesterase Research Unit registers patients with prolonged duration of action to succinylcholine and mivacurium. Patients were studied if they had equivocal phenotypes on the basis of BChE activity, biochemical inhibitor reactions and with pedigree if possible. Complete nucleotide sequencing was performed to describe the genotype and pedigree was used to separate the alleles. Multiple sequence alignment of BChE was performed for comparison with other species. Results Genotyping indicated seven novel mutations in the BCHE (I373T, G467S, W518R, L184S, V421A, M462I and R577H). Conclusion We have found seven new variants of the BCHE, which seem to reduce the activity of BChE in patients undergoing anaesthesia involving succinylcholine or mivacurium.
KW - BCHE
KW - BChE
KW - butyrylcholinesterase mutations
KW - mivacurium
KW - prolonged duration of action
KW - succinylcholine
U2 - 10.1097/FPC.0000000000000221
DO - 10.1097/FPC.0000000000000221
M3 - Journal article
C2 - 27031121
AN - SCOPUS:84962074595
VL - 26
SP - 351
EP - 356
JO - Pharmacogenetics
JF - Pharmacogenetics
SN - 1744-6872
IS - 7
ER -
ID: 179276861