scholarly journals GENETIC VARIANTS OF HUMAN BUTYRYLCHOLINESTERASE AND ITS POTENTIAL IMPACT ON EGYPTIAN FARM WORKERS ACUTELY EXPOSED TO ORGANOPHOSPHATE PESTICIDE

2019 ◽  
Vol 43 (1) ◽  
pp. 129-143
Author(s):  
El Mahdy NM ◽  
Kharoub HS ◽  
Sabry D
Keyword(s):  
Genetic Variants ◽  
Farm Workers ◽  
Organophosphate Pesticide ◽  
Potential Impact ◽  
Human Butyrylcholinesterase

scholarly journals Review of Genetic Variants of Butyrylcholinesterase and Their Potential Impact on Human Health

2021 ◽  
Vol 1 (1) ◽  
pp. 23-28
Author(s):  
Bharmatisna Anggaharsya Nugraha
Keyword(s):  
Genetic Variants ◽  
Local Anaesthetics ◽  
The Body ◽  
Resistant Variant ◽  
Abnormal Response ◽  
Potential Impact ◽  
K Variant ◽  
Molecular Bases ◽  
Atypical Variant ◽  
Human Butyrylcholinesterase

Butyrylcholinesterase (BChE) is an enzyme found in plasma and many other parts of the body. It is enzyme that hydrolyses drugs containing ester bonds such as drugs acting at the neuromuscular junction (succinylcholine) and local anaesthetics (procaine). Examination of the gene for mutations or polymorphisms causing the observed biochemical phenotypes has isolated those responsible for all the most widely known variants. The molecular bases of several genetic variants of BChE have been reported, such as the Atypical variant, fluoride-resistant variant, silent variant, K variant, J variant and C5 variant. In general, BChE polymorphisms have been shown to produce enzymes with varying levels of catalytic activity. Genetic variants of human butyrylcholinesterase were one of the first examples in the new field of pharmacogenetics when it was recognized that abnormal response to the succinylcholine was due to a mutated enzyme with low binding affinity. Beside that, variant of BChE has potential impact for Alzheimer disease patology

Review of Genetic Variants of Butyrylcholinesterase and Their Potential Impact on Human Health

2021 ◽  
Vol 1 (6) ◽  
pp. 135-140
Author(s):  
Bharmatisna Anggaharsya Nugraha
Keyword(s):  
Genetic Variants ◽  
Local Anaesthetics ◽  
The Body ◽  
Resistant Variant ◽  
Abnormal Response ◽  
Potential Impact ◽  
K Variant ◽  
Molecular Bases ◽  
Atypical Variant ◽  
Human Butyrylcholinesterase

Butyrylcholinesterase (BChE) is an enzyme found in plasma and many other parts of the body. It is enzyme that hydrolyses drugs containing ester bonds such as drugs acting at the neuromuscular junction (succinylcholine) and local anaesthetics (procaine). Examination of the gene for mutations or polymorphisms causing the observed biochemical phenotypes has isolated those responsible for all the most widely known variants. The molecular bases of several genetic variants of BChE have been reported, such as the Atypical variant, fluoride-resistant variant, silent variant, K variant, J variant and C5 variant. In general, BChE polymorphisms have been shown to produce enzymes with varying levels of catalytic activity. Genetic variants of human butyrylcholinesterase were one of the first examples in the new field of pharmacogenetics when it was recognized that abnormal response to the succinylcholine was due to a mutated enzyme with low binding affinity. Beside that, variant of BChE has potential impact for Alzheimer disease patology.

Review of Genetic Variants of Butyrylcholinesterase and Their Potential Impact on Human Health

2021 ◽  
Vol 1 (6) ◽  
pp. 135-145
Author(s):  
Bharmatisna Anggaharsya Nugraha
Keyword(s):  
Genetic Variants ◽  
Local Anaesthetics ◽  
The Body ◽  
Resistant Variant ◽  
Abnormal Response ◽  
Potential Impact ◽  
K Variant ◽  
Molecular Bases ◽  
Atypical Variant ◽  
Human Butyrylcholinesterase

Butyrylcholinesterase (BChE) is an enzyme found in plasma and many other parts of the body. It is enzyme that hydrolyses drugs containing ester bonds such as drugs acting at the neuromuscular junction (succinylcholine) and local anaesthetics (procaine). Examination of the gene for mutations or polymorphisms causing the observed biochemical phenotypes has isolated those responsible for all the most widely known variants. The molecular bases of several genetic variants of BChE have been reported, such as the Atypical variant, fluoride-resistant variant, silent variant, K variant, J variant and C5 variant. In general, BChE polymorphisms have been shown to produce enzymes with varying levels of catalytic activity. Genetic variants of human butyrylcholinesterase were one of the first examples in the new field of pharmacogenetics when it was recognized that abnormal response to the succinylcholine was due to a mutated enzyme with low binding affinity. Beside that, variant of BChE has potential impact for Alzheimer disease patology.

(29) New genetic variants of human butyrylcholinesterase in the Brazilian population

2005 ◽  
Vol 157-158 ◽  
pp. 400
Author(s):  
L.R. Mikami ◽  
R.L.R. Souza ◽  
E.A. Chautard-Freire-Maia ◽  
O. Lockridge
Keyword(s):  
Genetic Variants ◽  
Brazilian Population ◽  
Human Butyrylcholinesterase

scholarly journals Proposed nomenclature for human butyrylcholinesterase genetic variants identified by DNA sequencing

1991 ◽  
Vol 11 (1) ◽  
pp. 79-89 ◽  
Author(s):  
Bert N. La Du ◽  
Cynthia F. Bartels ◽  
Christine P. Nogueira ◽  
Martine Arpagaus ◽  
Oksana Lockridge
Keyword(s):  
Dna Sequencing ◽  
Genetic Variants ◽  
Human Butyrylcholinesterase

Suicide and Organophosphate Pesticide Exposure Amongst South African Farm Workers

Epidemiology ◽  
2006 ◽  
Vol 17 (Suppl) ◽  
pp. S371-S372 ◽  
Author(s):  
M Maruping ◽  
L London ◽  
A Flisher
Keyword(s):  
South African ◽  
Pesticide Exposure ◽  
Farm Workers ◽  
Organophosphate Pesticide

scholarly journals Impact of regulatory variation from RNA to protein

Science ◽  
2014 ◽  
Vol 347 (6222) ◽  
pp. 664-667 ◽  
Author(s):  
Alexis Battle ◽  
Zia Khan ◽  
Sidney H. Wang ◽  
Amy Mitrano ◽  
Michael J. Ford ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Messenger Rna ◽  
Effect Sizes ◽  
Posttranslational Regulation ◽  
Transcript Expression ◽  
Protein Abundance ◽  
Expression Levels ◽  
Protein Levels ◽  
Potential Impact ◽  
The Impact

The phenotypic consequences of expression quantitative trait loci (eQTLs) are presumably due to their effects on protein expression levels. Yet the impact of genetic variation, including eQTLs, on protein levels remains poorly understood. To address this, we mapped genetic variants that are associated with eQTLs, ribosome occupancy (rQTLs), or protein abundance (pQTLs). We found that most QTLs are associated with transcript expression levels, with consequent effects on ribosome and protein levels. However, eQTLs tend to have significantly reduced effect sizes on protein levels, which suggests that their potential impact on downstream phenotypes is often attenuated or buffered. Additionally, we identified a class of cis QTLs that affect protein abundance with little or no effect on messenger RNA or ribosome levels, which suggests that they may arise from differences in posttranslational regulation.

Expression of three naturally occurring genetic variants (G75R, E90D, I99M) of the BCHE gene of human butyrylcholinesterase

2007 ◽  
Vol 17 (9) ◽  
pp. 681-685 ◽  
Author(s):  
Liya R. Mikami ◽  
Stacy Wieseler ◽  
Ricardo L.R. Souza ◽  
Lawrence M. Schopfer ◽  
Oksana Lockridge ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Naturally Occurring ◽  
Human Butyrylcholinesterase
Sign in / Sign up

Export Citation Format

Share Document