• The final study, published today in the BMC journal Environmental Health [ full journal article below ], found that veterans with identified variants of the butyrylcholinesterase (BChE) gene were 40 times more likely to have GWI if they took an anti-nerve gas pill called pyridostigmine bromide (PB) during the war, compared to veterans with similar genes who did not take the pill. (91outcomes.com)
  • 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. (inra.fr)
  • 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. (inra.fr)
  • Patients were studied if they had equivocal phenotypes on the basis of BChE activity, biochemical inhibitor reactions and with pedigree if possible. (inra.fr)
  • BACKGROUND: Butyrylcholinesterase (BChE) hydrolyses the neuromuscular blocking agents, succinylcholine and mivacurium used during general anaesthesia. (inra.fr)
  • We present three novel mutations in the butyrylcholinesterase gene (BCHE) identified in three families in which a member had experienced severely prolonged duration of action of succinylcholine. (inra.fr)
  • Human butyrylcholinesterase (BChE) is composed predominantly of tetramers. (inrae.fr)
  • All compounds exhibited a good activity, and eight of them (5-8, 10, 14, 15 and 20) shared comparable low micromolar inhibitory potency versus Aβ40 aggregation and human acetylcholinesterase (AChE), while inhibiting human butyrylcholinesterase (BChE) even at submicromolar concentration. (ibecbarcelona.eu)
  • Several studies have investigated a potential genotype-phenotype correlation between NF1 and seizure susceptibility, but an association was not identified. (blogspot.com)
  • Butyrylcholinesterase may be a physiological ghrelin regulator. (wikipedia.org)
  • The objective of this study was to analyze the clinical phenotype, genetic background, and biophysical function of disease-associated Kv3.2 variants. (blogspot.com)
  • Functional analysis of 4 variants demonstrated gain of function in 3 severely affected DEE cases and loss of function in 1 case with a milder phenotype (GGE) as the underlying pathomechanisms. (blogspot.com)
  • The most common approach to finding such variants involved testing whether polymorphisms in candidate genes were associated with disease risk in a small group of unrelated patients with the same phenotype (e.g., diabetes, obesity). (basicmedicalkey.com)
  • Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes. (mousephenotype.org)
  • We conclude that our method represents a simple way in which potentially tens of thousands of molecular phenotypes could be screened for causal relationships with disease without having to expensively measure these variables in individual disease collections. (prolekarniky.cz)
  • Assay of butyrylcholinesterase activity in plasma can be used as a liver function test as both hypercholinesterasemia and hypocholinesterasemia indicate pathological processes. (wikipedia.org)
  • Characterization of a prothrombotic phenotype using thrombin generation and thrombin activity in cirrhosis and portal hypertension. (liver.at)
  • METHODS: A total of 58 patients carrying either the wild-type butyrylcholinesterase or different combinations of the atypical (A) variant and the K variant were included. (inra.fr)
  • Our laboratory has shown that up to 40 carboxy terminal residues of each subunit contribute to the stabilization of tetramers (R.M. Blong, E. Bedows, O. Lockridge, The tetramerization domain of butyrylcholinesterase is at the carboxy-terminus, Biochem. (inrae.fr)
  • Local reference values for acetyl and butyrylcholinesterase were determined in Aberdeen Angus bovine and cross bred cattle (n D 25), a requirement to be able to evaluate toxicity of commercial organophosphate and carbamate formulations. (umaza.edu.ar)
  • A randomized crossover trial assessing the effects of acute exercise on appetite, circulating ghrelin concentrations, and butyrylcholinesterase activity in normal-weight males with variants of the obesity-linked FTO rs9939609 polymorphism. (cdc.gov)
  • The inherited form of the enzyme transfers in an autosomal recessive manner secondary to mutations in the butyrylcholinesterase gene, located on chromosome 3 (3q26.1-26.20). (medscape.com)
  • Association between RAPH1 Gene Haplotypes and CHE2 Locus Phenotypes. (cdc.gov)
  • Historically, an inherited variation was often seen initially as a result of the clinical observation of an unusual response to drug therapy in an individual (e.g., prolonged apnea after succinylcholine, which results from a genetically atypical form of butyrylcholinesterase). (nih.gov)
  • The role of inheritable variations in predisposing to ADRs was shown by the correlation between drug responses and inherited deficiencies of metabolic enzymes such as pseudocholinesterase (butyrylcholinesterase) and glucose-6-phosphate dehydrogenase (G6PD).Genetic polymorphisms (variants alleles present at least in 1% of the normal population) are a source of genetic variation to drug responses. (nih.gov)
  • Assay of butyrylcholinesterase activity in plasma can be used as a liver function test as both hypercholinesterasemia and hypocholinesterasemia indicate pathological processes. (wikipedia.org)
  • 3. Discovery of a butyrylcholinesterase-specific probe via a structure-based design strategy. (nih.gov)