BCHE, fluoride 2

MedGen UID:: 855179
•Concept ID:: C3889588
•: Finding

Synonym:	BCHE, FLUORIDE 2

OMIM®:	177400

Recent clinical studies

Etiology

Activity and polymorphisms of butyrylcholinesterase in a Polish population.

Jasiecki J, Jońca J, Żuk M, Szczoczarz A, Janaszak-Jasiecka A, Lewandowski K, Waleron K, Wasąg B
Chem Biol Interact 2016 Nov 25;259(Pt B):70-77. Epub 2016 Apr 22 doi: 10.1016/j.cbi.2016.04.030. PMID: 27109752

The allele frequency of T920C mutation in butyrylcholinesterase gene is high in an Indian population.

David SM, Soundararajan L, Boopathy R
Gene 2015 Jan 25;555(2):409-13. Epub 2014 Nov 20 doi: 10.1016/j.gene.2014.11.040. PMID: 25447891

Identification of human plasma cholinesterase variants in 6,688 individuals using biochemical analysis.

Jensen FS, Skovgaard LT, Viby-Mogensen J
Acta Anaesthesiol Scand 1995 Feb;39(2):157-62. doi: 10.1111/j.1399-6576.1995.tb04035.x. PMID: 7793180

See all (3)

Diagnosis

Release of protein-bound nerve agents by excess fluoride from whole blood: GC-MS/MS method development, validation, and application to a real-life denatured blood sample.

Koller M, Thiermann H, Worek F, Wille T
J Chromatogr B Analyt Technol Biomed Life Sci 2021 Aug 1;1179:122693. Epub 2021 Apr 15 doi: 10.1016/j.jchromb.2021.122693. PMID: 34171608

Timing of blood sampling for butyrylcholinesterase phenotyping in patients with prolonged neuromuscular block after mivacurium or suxamethonium.

Mintjens N, Brummans R, Soetens F, Claes KBM, Vanlinthout LE
Acta Anaesthesiol Scand 2021 Feb;65(2):182-187. Epub 2020 Oct 19 doi: 10.1111/aas.13718. PMID: 33010031

Planarian cholinesterase: in vitro characterization of an evolutionarily ancient enzyme to study organophosphorus pesticide toxicity and reactivation.

Hagstrom D, Hirokawa H, Zhang L, Radic Z, Taylor P, Collins ES
Arch Toxicol 2017 Aug;91(8):2837-2847. Epub 2016 Dec 18 doi: 10.1007/s00204-016-1908-3. PMID: 27990564 Free PMC Article

Activity and polymorphisms of butyrylcholinesterase in a Polish population.

An improvement in segregation of human butyrylcholinesterase phenotypes having the fluoride-resistant variants.

Kovarik Z, Simeon-Rudolf V
Arh Hig Rada Toksikol 2003 Dec;54(4):239-44. PMID: 14994645

See all (5)

Therapy

Human butyrylcholinesterase L330I mutation belongs to a fluoride-resistant gene, by expression in human fetal kidney cells.

Sudo K, Maekawa M, Akizuki S, Magara T, Ogasawara H, Tanaka T
Biochem Biophys Res Commun 1997 Nov 17;240(2):372-5. doi: 10.1006/bbrc.1997.7658. PMID: 9388484

Identification of human plasma cholinesterase variants in 6,688 individuals using biochemical analysis.

Jensen FS, Skovgaard LT, Viby-Mogensen J
Acta Anaesthesiol Scand 1995 Feb;39(2):157-62. doi: 10.1111/j.1399-6576.1995.tb04035.x. PMID: 7793180

Cholinesterase inhibitors proposed for treating dementia in Alzheimer's disease: selectivity toward human brain acetylcholinesterase compared with butyrylcholinesterase.

Pacheco G, Palacios-Esquivel R, Moss DE
J Pharmacol Exp Ther 1995 Aug;274(2):767-70. PMID: 7636741

See all (3)