Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.1.7 (acetylcholinesterase)
 28,390 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Our laboratory has recently shown that several variant forms of human butyrylcholinesterase, associated with unusual sensitivity to succinylcholine, are caused by specific mutations within the structural DNA coding for this enzyme. Atypical (dibucaine-resistant) butyrylcholinesterase is caused by a point mutation at nucleotide position 209(GAT-- greater than GGT), which changes aspartate 70 to glycine. One fluoride-resistant variant family has a point mutation at nucleotide 728(ACG-- greater than ATG), which changes threonine 243 to methionine. Another type of fluoride-resistant variant has a point mutation at nucleotide 1169(GGT-- greater than GTT), which changes glycine 390 to valine. One type of silent phenotype is due to a frame-shift mutation at nucleotide position 351(GGT-- greater than GGAG). A polymorphic site at nucleotide position 1615 (GCA/ACA), coding for Ala/Thr, accounts for the quantitative K-variant, which causes an approximate one-third reduction of activity, if Thr occupies that position at codon 539. Examples are given to illustrate the advantages of using a combination of the new DNA analytical techniques, including: the use of allele-specific probes, with the standard serum cholinesterase phenotyping methods. More accurate typing of patients with certain variants is now possible; pedigree analysis will be aided by the improved methodology.
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PMID:Phenotypic and molecular biological analysis of human butyrylcholinesterase variants. 225 36

A case of prolonged action of suxamethonium in a patient with gestational trophoblastic disease is reported. Postoperatively the patient was found to have markedly reduced plasma cholinesterase activity (363 IU/litre) with a normal cholinesterase phenotype. Consequently plasma cholinesterase activity and phenotype were measured in six other patients with the condition and these results compared with those of 22 patients with normal first trimester pregnancies undergoing therapeutic abortion. Plasma cholinesterase phenotype was normal in all patients studied. The activity was significantly decreased (p less than 0.05) from the normal range (620-1370 IU/litre) in all patients with trophoblastic disease. In the 22 patients with normal pregnancies, 14 had activity values in the abnormal range (less than 620 IU/litre) while the mean cholinesterase activity of the group as a whole was significantly decreased (561.8 IU/litre, p less than 0.05) below the normal range. These results confirm the presence of a decrease in plasma cholinesterase activity in early pregnancy and provide new evidence for a decrease in activity in a pseudopregnancy state.
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PMID:Plasma cholinesterase and trophoblastic disease. Gestational trophoblastic disease and reduced activity of plasma cholinesterase. 631 38

Clinical symptoms and abnormality of laboratory examinations in 62 patients with proven pancreatic carcinoma were studied. The following indications for detailed examination of the pancreas have been evolved: (1) vague abdominal symptoms, (2) jaundice, (3) abnormalities of laporatory examinations including serum LAP, ALP, amylase and cholinesterase level, and abnormal GTT. In the jaundiced patient the initial examination is US followed by PTCD to relieve the jaundice, and then angiography to assess resectability of the tumor. In the non-jaundiced patient US is used as a screening procedure. Should this be abnormal a lesion may be confirmed by CT. If not ERCP is indicated when there is some distinct reason to suspect pancreatic disease. If ERCP reveals abnormality then angiography is performed to determine whether the lesion is benign or malignant, and if malignant it is resectable or not. In the period of 1968 and 1981, 112 proven pancreatic carcinomas were studied. Overall resectability was 26%. Thirty tumors were less than 3 cm and the smallest lesion measured 1.2 cm.
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PMID:[Problems of early diagnosis of pancreatic cancer and evaluation of various morphological studies]. 687 17