• 4.5 × 10 -9 ), is also an expression quantitative trait locus for BCHE (butyrylcholinesterase), expressed in thalamus tissue. (nih.gov)
  • 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)
  • The Baylor study compared BChE in 144 veterans with GWI and 160 healthy veterans, and probed specifically to find out if the association of GWI with PB differed with BChE genetic type. (91outcomes.com)
  • The risk was dramatically higher, however, for the nine percent of veterans with genetic forms of BChE that provide reduced enzyme protection. (91outcomes.com)
  • She emphasized that the specific genetic link identified by the study would apply only to the subgroup of veterans with "at risk" BChE genotypes and would not explain other cases of GWI. (91outcomes.com)
  • She noted that the gene-exposure interaction identified by the study is consistent with previous suggestions that genetic differences in BChE and other protective enzymes are important for understanding the long term health effects of chemicals encountered by military personnel during Gulf War deployment. (91outcomes.com)
  • We estimated the frequencies of serum butyrylcholinesterase (BChE) alleles in three tribes of Mapuche Indians from southern Chile, using enzymatic methods, and we estimated the frequency of allele BCHE*K in one tribe using primer reduced restriction analysis (PCR-PIRA). (uai.cl)
  • 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)
  • 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)
  • Once it is inherited, it's chromosome recessive and caused by genetic changes within the BCHE gene. (usa-good.com)
  • Red cell acylpeptide hydrolase (APH) was shown to be an improved biomarker for exposure to the oxon forms of chlorpyrifos and diazoxon with the added advantages of a much longer half-life of the OP adducted protein compared with butyrylcholinesterase (BChE) (33d vs. 11d) and a significantly increased sensitivity of OP adduct determination. (nih.gov)
  • 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)
  • Brain-derived neurotrophic factor (BDNF) and butyrylcholinesterase (BCHE) are two genes associated with β-amyloid plaques and neurofibrillary tangles that are two key factors in the pathophysiology of AD. (scite.ai)
  • Structure-function relationships of cholinesterases (CHEs) were studied by expressing site-directed and naturally occurring mutants of human butyrylcholinesterase (BCHE) in microinjected Xenopus oocytes. (inrae.fr)
  • To study the molecular origin of the altered regulation of butyrylcholinesterase (BCHE) in nervous system tumors, BCHE complementary DNA (cDNA) sequences from human glioblastoma and neuroblastoma cDNA libraries were compared with BCHE cDNAs from normal fetal and adult tissues. (inrae.fr)
  • Our findings confirm previous genetic linkage mapping of the functional CHE gene to the 3q26-ter position and demonstrate that extended functional mRNA transcripts encoding a BCHE form with two modified amino acids are produced from this gene in glioblastoma and neuroblastoma cells. (inrae.fr)
  • Human butyrylcholinesterase (BChE) is composed predominantly of tetramers. (inrae.fr)
  • To further characterize our genetic findings, we examined the functional and clinical/behavioral significance of GWAS variants. (nih.gov)
  • Converging findings presented in this study provide support for the role of genetic variants within 3q26 in neural and behavioral disinhibition. (nih.gov)
  • Naturally Occurring Genetic Variants of Human Acetylcholinesterase and Butyrylcholinesterase and Their Potential Impact on the Risk of Toxicity from Cholinesterase Inhibitors. (cdc.gov)
  • Traditionally the search for genetic variants that influence risk for Mendelian conditions and common complex diseases has been a daunting task and has been one of the major obstacles to developing precision medicine. (basicmedicalkey.com)
  • It is common practice in genome-wide association studies (GWAS) to focus on the relationship between disease risk and genetic variants one marker at a time. (prolekarniky.cz)
  • However, single genetic variants typically explain small amounts of disease risk. (prolekarniky.cz)
  • We found that allelic scores derived from known variants and allelic scores derived from hundreds of thousands of genetic markers explained significant portions of the variance in biological intermediates of interest, and many of these scores showed expected correlations with disease. (prolekarniky.cz)
  • For example, the association between coronary heart disease and genetic variants located within genes regulating levels of low density lipoprotein (LDLc) [1] - [4] , confirms low density cholesterol as a key player in the aetiology of coronary heart disease. (prolekarniky.cz)
  • We found some articles related to environmental interactions with inherited genotype and others on environmental exposures that damage genetic material and initiate molecular pathways of pathogenesis. (cdc.gov)
  • More than half (23 of 39) of the articles represent epidemiologic studies including candidate gene and genome-wide association studies (GWAS) examining genetic effect modification on disease risk. (cdc.gov)
  • Genetic analysis may demonstrate a number of allelic mutations in the pseudocholinesterase gene, including point mutations resulting in abnormal enzyme structure and function and frameshift or stop codon mutations resulting in absent enzyme synthesis. (medscape.com)
  • As previously indicated, gene therapy can be used to improve human health in several different ways, including deactivating a defective or mutated gene, replacing a defective or mutated gene with a healthy copy of the same gene, and adding new genetic material that provides a treatment benefit normally provided through such means as surgery or use of conventional medications. (promises.com)
  • In an animal study published in 2008 in the journal "Synapse," a multi-institution research team used gene therapy to make specific genetic alterations and increase the numbers of D2 receptors in targeted brain areas of cocaine-addicted rats. (promises.com)
  • butyrylcholinesterase (pseudocholinesterase) found in the blood plasma and acetylcholinesterase found in red blood cells. (labtestsonline.org.uk)
  • Pseudocholinesterase deficiency may be inheritable (genetic) or acquired. (usa-good.com)
  • Pseudocholinesterase deficiency is a genetic disorder that can cause slow development seizures and diminished muscle control It occurs when the body does not produce enough pseudocholinesterase -- a protein that breaks down certain chemicals in the brain and nervous system.Pseudocholinesterase deficiency are often non inheritable ANd/or be transmissible. (usa-good.com)
  • Patients who demonstrate an abnormal genetic variant, a decrease in concentration by seventy-five percent, or who are exposed to chemicals or medications that block or reduce the serum concentration of pseudocholinesterase will potentially experience prolonged duration of action. (ispub.com)
  • Assay of butyrylcholinesterase activity in plasma can be used as a liver function test as both hypercholinesterasemia and hypocholinesterasemia indicate pathological processes. (wikipedia.org)
  • Biomarkers of exposure (pyrethroids, organophosphates, carbamates, and thioethers in urine and butyrylcholinesterase activity in plasma), early effect (micronuclei in lymphocytes and reticulocytes, T-cell receptor mutation assay, chromosomal aberrations, comet assay and lymphocytes subpopulations) and susceptibility (genetic polymorphisms related to metabolism - EPHX1, GSTM1, GSTT1 and GSTP1 - and DNA repair-XRCC1 and XRCC2) were evaluated. (cdc.gov)
  • 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)
  • It is common practice within genome-wide association studies (GWAS) and their meta-analyses to focus on the relationship between disease risk and single nucleotide polymorphisms (SNPs) one genetic variant at a time. (prolekarniky.cz)
  • These novel genetic findings highlight the importance of including AA populations in genetics research on SUDs and the utility of the endophenotype approach in enhancing our understanding of mechanisms underlying addiction susceptibility. (nih.gov)
  • However, although genetics is actually based on genetic material in the form of DNA, many different processes are involved. (gentaur.co.uk)
  • Genetic changes in microbes, animal vectors, and humans were included. (cdc.gov)
  • WACO, Texas (Jan. 20, 2015) - Nearly 24 years after the 1991 Gulf War, a Baylor University scientist has identified a significant link between Gulf War illness (GWI) and a genetic factor that can render some individuals more susceptible to adverse effects of certain chemicals. (91outcomes.com)
  • Understanding your genetic susceptibility can guide you towards preventing future diseases. (geneticlifehacks.com)
  • Occupational exposures involving crystalline silica and multiwalled carbon nanotubes were also studied in relation to genetic damage and initiation of disease processes. (cdc.gov)
  • such work may prove instrumental in the development of new AAV-based therapies for genetic diseases which affect the central nervous system. (upenn.edu)
  • Nevertheless, for some common diseases and drug responses, genetic testing, and in several cases, precision medicine, are already being adapted to the clinical setting. (basicmedicalkey.com)
  • These are diseases of genetic origin. (recherche-myologie.fr)
  • These results are important because they identify a specific genetic factor that would plausibly put veterans at increased risk for GWI in connection with a chemical to which personnel were widely exposed during the 1991 Gulf War. (91outcomes.com)
  • It has long been known that genetic differences can produce differences in how individuals metabolize certain chemicals," Steele said. (91outcomes.com)
  • Steele cautioned that these findings can only be considered preliminary, since the study is the first to report this genetic association and included a relatively small number of veterans. (91outcomes.com)
  • The aim of this work was to evaluate genetic damage and immunological alterations in workers of both traditional and organic farm ing. (cdc.gov)
  • Data from a mouse model study of the effects of PON1 genetic variability on the ability of a mother to protect a fetus from exposure to chlorpyrifos oxon were analyzed and published. (nih.gov)
  • These experiments emphasize the importance of Dr. Furlong and his research team's earlier study on the genetic variability of PON1 status in farmworker mothers and their babies where a large variability in PON1 status was observed. (nih.gov)
  • To date, this is the first study on the anti-acetyl/butyrylcholinesterase effects of diethyl ether extract from Algerian pomegranate peels. (eurekaselect.com)
  • 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)
  • Precision or predictive medicine is a model of practice in which each person's personal risk for rare and common conditions and the effectiveness of various treatments are estimated directly from their unique combination of genetic and environmental risk factors. (basicmedicalkey.com)
  • Precision medicine is the use of each person's unique combination of genetic and environmental risk factors to make predictions about their disease risk and response to various treatments. (basicmedicalkey.com)
  • Therefore, these approaches combining the use of different catalytic systems, the improvement of tools such as immobilization technology, or chemical or genetic modification to improve the synthesization in the glycosylation process could be a very useful tool in a continuous biotechnological advance. (preprints.org)
  • Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions. (medlineplus.gov)