Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: EC:3.1.1.7 (acetylcholinesterase)
28,390 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A congenital erythrocyte pyruvate kinase (PK) deficiency was found in a 72-year old female patient with chronic myelomonocytic leukemia (CMML). Erythrocyte PK deficiency was associated with an increase in the activity of hexokinase, 6-phosphogluconate dehydrogenase and glutathione peroxidase in erythrocytes as well as a decrease in acetylcholinesterase, glutathione reductase and glucosephosphate isomerase activities. The enzymatic abnormalities were accompanied by alterations in hemoglobin and in i antigen content of erythrocyte membrane. In addition, bone marrow ultrastructural studies showed dyshemopoietic changes in all blood cell lines and especially in erythroblasts. The present findings confirm the close relationship between CMML and acquired dyserythropoietic syndromes and constitute a new observation of the infrequent association of hereditary erythrocyte enzymopathies and leukemia. A survey of the literature is presented.
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PMID:Chronic myelomonocytic leukemia associated with hereditary pyruvate kinase deficiency and multiple acquired erythrocyte abnormalities. 10 94

Blood samples collected in a single Pygmy tribe, the Aka, living in Bokoka district (Central African Empire) were investigated with respect to the phenotype and gene frequencies of the following 12 enzyme systems: acid phosphatase, adenosine deaminase, adenylate kinase, carbonic anhydrase, esterase D, glucose-6-phosphate dehydrogenase, malate dehydrogenase, phosphoglucomutase 1, phosphoglucomutase 2, phosphogluconate dehydrogenase, superoxide dismutase and serum cholinesterase variants (locus E1 and E2). The data obtained in the study of genetic polymorphisms of this isolated and inbred population show a specific pattern with the following characteristics: the very low frequency of PGDB and pa alleles; the existence of two rare PGM variants at the PGM2 locus, typical PGM26Pyg (4.2%) and PGM29 (0.2%); the high frequency of the pr allele (10.8%) and CAII2 (8.22%) and ESD2 genes (18.4%). Furthermore, at the G6PD locus four distinct alleles have been found: the negroid GdA- (4%) and GdA+ (16%), the common GdB+ (79.2%)--, and the rare Gd+Ibadan Austin (0.7%). Cholinesterase typings disclosed the presence of the uncommon E1f and E1s genes distributed within a single breeding unit. The results are compared with other data previously reported on South African Khoisan and some Negroid populations; the particular genetic background of Pygmies is discussed.
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PMID:Population genetic studies of the Aka pygmies (Central Africa): a survey of red cell and serum enzymes. 46 35

The phenotypic distribution and gene frequencies of haptoglobin (Hp), transferrin (Tf), group specific component (Gc), cholinesterase (Cho E2), and alpha1-antitrypsin (Pi) in plasma proteins, and phosphoglucomutase (PGM), 6-phosphogluconate dehydrogenase ((6-PGD), esterase D (Es D), phosphohexose isomerase (PHI), adenosine deaminase (ADA) and acid phosphatase (AcP) in red cells were studied in 127 atopic, asthmatic patients. The gene frequencies were compared with normal groups. The phenotypic distribution of the Pi system in atopic patients was somewhat different from the normal. No significant differences were found between the two groups in protein systems or in enzyme systems, except Pi systems. In conclusion, except for the Pi system, no definite association between polymorphic traits and atopic asthma was found in this study.
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PMID:The distribution of polymorphic traits in atopic asthmatic patients. 108 Mar 21

1. The relationship between red cell aging and enzyme activities was studied in rabbit, guinea-pig, hamster, rats (F344/N and SD), and mice (BALB/c and DBA/2). 2. The activities of six enzymes: glucose-6-phosphate dehydrogenase (G-6-PD), 6-phosphogluconate dehydrogenase (6-PGD), hexokinase (Hx), glutamate oxaloacetate transminase (GOT), lactate dehydrogenase (LDH) and acetylcholinesterase (AChE), were measured in the red cells of different ages which were obtained either by centrifugation or experimental anaemia. 3. Hx, AChE and GOT activities were much higher in younger red cells than in older cells, hence the activities of these enzymes may be used as an indicator of age of the cells.
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PMID:The relationship between red cell aging and enzyme activities in experimental animals. 176 9

1. Interstrain differences in red blood cell enzyme activities were studied in mice (BALB/c, C57BL/6, C3H/He, DBA/2 and ddY) and rats (Donryu, F344/N, SD, Wistar and Wistar/ST), and were also compared with hamster, guinea-pig and rabbit. 2. The enzyme activities measured were: glutathione S-transferase (GST), glucose-6-phosphate dehydrogenase (G-6-PD), 6-phosphogluconate dehydrogenase (6-PGD), NADPH-diaphorase (ND), hexokinase (Hx), glutamate oxaloacetate transaminase (GOT), lactate dehydrogenase (LDH) and acetylcholinesterase (AChE). 3. There were marked variations in the activities of some red cell enzymes (e.g. GST, Hx, ND), while others (e.g. G-6-PD, 6-PGD) were much less variable both within different strains and species.
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PMID:Interstrain differences in red cell enzyme activities in mice and rats. 178 55

The genetic structure of two Chukot Evens subpopulations (314 individuals) for electrophoretic protein systems and taste sensitivity to PTC was studied. 17 of the 39 loci were polymorphic (43.59%). The following systems were completely monomorphic: diaphorase NAD H (Dia); glucose-6-phosphate dehydrogenase (G-6-PD); glutamatoxalate transaminase (GOT); carbonic anhydrase (Ca-1); catalase (Ct), lactate dehydrogenase (loci LDH-A and LDH-B); leucine aminopeptidase (Lap); malate dehydrogenase (MDH); purine nucleoside phosphorylase (PNP); superoxide phosphorylase (PNP); superoxide dismutase (SOD); phosphoglucomutase-2 (PGM2); cholinesterase (locus E1); red cell esterase (4 loci); albumin (Alb); hemoglobin (Hb A and B); ceruloplasmin (Cp); and blood, gren, using the standard method. The following systems were polymorphic: red cell acid phosphatase (AcP); phosphoglucomutase-1 (PGM1); 6-phosphogluconate dehydrogenase (PGD); glutamatepyruvate transaminase (GPT); glyoxalase-1 (GLO-1); esterase (EsD); adenilatkinase (AK); alkaline phosphatase (Pp); cholinesterase (locus E2); haptoglobin (Hp); transferrin (Tf); group-specific component (Gc) and ABO, MN, Lewis, P blood groups and taste sensitivity to PTC. The following allele frequencies for polymorphic loci have been detected: AKI = 0.994; GLO = 1I = 0.082; GPT1 = 0.653; AcPA = 0.400; AcPB = 0.599; AcPC = 0.001; PGDA = 0.944; PGM1(1) = 0.906; EsD1 = 0.897; E2+ = 0.048; HpI = 0.394; GcI = 0,919; Tfc = 0.987; r(O) = 0.669; p(A) = 0.184; q(B) = 0.146; M = 0.711; Le = 0.411; P1+ = 0.521; t = 0.295. The genetic structure of Chukot Evens population is significantly nearer to that of the other ethnic groups of the North-East, in comparison with the genetic structure of Evenks of the Middle Siberia.
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PMID:[Genetic structure of the populations of native inhabitants in the northeastern USSR. V. The Chukot Evens]. 293 99

The enzymatic changes in the facial nucleus of the rat occurring after single nerve transection were compared with those after double lesion. In a first operation the left facial nerve was transected and 2 weeks later, both the left and the right facial nerves were axotomized. The double or "conditioning" lesion produced a complex pattern of changes that differed from those after a single lesion. Three enzymes were investigated both biochemically and histochemically. Acetylcholinesterase is representative of the group of transmitter-related enzymes which in general showed a decrease after a single lesion. The hexose monophosphate shunt enzymes, represented here by glucose-6-phosphate dehydrogenase and 6-phosphogluconate dehydrogenase, are known to increase in the perikaryon. 5'-Nucleotidase is a marker enzyme for the perineuronal satellite glia which also increase in number during chromatolysis. The following results were obtained: (i) In comparison with the single-lesion side the conditioning-lesion side exhibited less activity of the pentose phosphate shunt enzymes on days 7 and 12 after the second operation. On the conditioning-lesion side the amount of enzyme per perikaryon was higher on days 1 and 3, approximately the same on day 7, and less on day 12 compared with the single-lesion side. (ii) The conditioning-lesion side displayed a more pronounced decrease of acetylcholinesterase. (iii) 5'-Nucleotidase increased again after a second axotomy and reached the same level of activity as after a single lesion. These data suggest that a conditioning lesion does not simply amplify the ongoing axonal reaction of the cells in a linear fashion, but that it leads to a complex response. The data are in favor of a shorter initial delay prior to the axonal outgrowth which occurs after a conditioning lesion. However, our data could not explain an enhancement of axonal outgrowth velocity after the second operation.
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PMID:Enzyme changes in the rat facial nucleus following a conditioning lesion. 608 72

The genetic structure of three Asiatic eskimos subpopulations (402 individuals), five coast chuckchies subpopulations (1793 individuals) and three reindeer chuckchies subpopulations (559 individuals) have been studied for 26 electrophoretic protein systems (33 loci). These are: adenilate-kinase (AK), diaphorase NAD X H (Dia), glyoxalase-1 (GLO-1), glucose-6-phosphate dehydrogenase (6GPT), glutamatpyruvate transaminase (GPT), glutamicoxalate transaminase (GOT), carbonic anhydrase-1 (Ca-1), catalase (Ct), acid phosphatase (AcP), lactate dehydrogenase (loci LDH-A and LDH-B), leucine aminopeptidase (Lap), malatedehydrogenase (MDH), purine nucleoside phosphorylase (PNP), superoxide dismutase (Sod), 6-phosphogluconate dehydrogenase (PGD), phosphoglucomutase (loci PGM1 and PGM2), cholinesterase (loci c1--c5), alkaline phosphatase (Pp), esterase D (EsD), red cell esterase (Est) - 4 loci, albumin (Alb), haptoglobin (Hp), hemoglobine (Hb A and B), group-specific component (Gc), transferrin (Tf), ceruloplasmin (Cp). In addition, AB0 and Rh system blood groups and phenyl thiocarbamide taste sensitivity (PTC) have been studied. 12 of 36 loci are polymorphic (33.33%), heterozygosity for all loci in eskimos, coastal and reindeer chuckchies being 0.118 +/- 0.005, 0.130 +/- 0.002 and 0.120 +/- 0.004, respectively. These estimates do not differ essentially from heterozygosity at these loci for mongoloid groups living further south. The test for interpopulation heterogeneity has permitted to estimate contribution of the loci to the differentiation of these populations. The least heterogeneity has been found at loci where gene frequency distribution is the most specific for these ethnic groups.
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PMID:[Genetic structure of the populations of native inhabitants in the northeastern USSR. III. Asiatic Eskimos and the coast and reindeer Chukchi]. 643 3

In this communication, the results of applying various histochemical techniques for the localization of oxidoreductases, transferases, hydrolases and isomerases in the human heart are presented. The Purkinje fibres of the atrioventricular conducting system of the human heart differ from the myocardium proper in containing a slightly higher activity of most of the glycolytic and gluconeogenetic enzymes investigated. The relatively higher activity of 6-phosphofructokinase, the key enzyme in anaerobic carbohydrate metabolism, is especially noteworthy. On the other hand, the activities of some of the enzymes that play a part in the aerobic energy metabolism is slightly less than those in the myocardium fibres. As for the activity of the NADPH regenerating enzymes, the activity of 6-phosphogluconate dehydrogenase and malate dehydrogenase (oxaloacetate-decarboxylating) is somewhat higher, and the activity of glucose-6-phosphate dehydrogenase similar, in the Purkinje fibres compared to that in the myocardial fibres. The activity of myosin ATPase is similar for both types of fibre. Likewise, the fibres of the conducting system and of the myocardium show a similar activity of acid phosphatase, beta-glucuronidase, non-specific naphthylesterase and peroxidase. The neurogenic function of the conducting system of the human heart was demonstrated by the high activity of acetylcholinesterase in the Purkinje fibres and in the atrioventricular node. All these histochemical findings in Purkinje fibres are similar at widely differing levels of the conducting system.
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PMID:Enzyme histochemical studies on the conducting system of the human heart. 744 Feb 54

(1) The effects of the neurotoxin 3-acetylpyridine on the levels of soluble proteins and enzyme activities in various tissues of Japanese quail were investigated. (2) SDS-polyacrylamide gel electrophoresis showed that in the brain the soluble proteins with a molecular mass corresponding to 18 kDa were increased in quail treated with this toxin. The soluble liver proteins with the largest molecular masses (200, 120, 98, 80.5 and 58 kDa) were either missing or present at lower concentrations in the treated group compared to those in the controls while those of lower molecular mass (62, 55, 45, 36.5 and 24 kDa) were found to be present in higher concentrations. Similarly, treatment with 3-acetylpyridine tended to decrease the concentration of soluble proteins in pectoral muscle having a high molecular mass (160, 98, 60, 33, 30.5, 22 and 14 kDa) and to increase those having a low molecular mass (26, 20, 19.5 and 16 kDa). (3) There was a marked reduction in the treatment group in the concentration of NAD in pectoral muscle but not in other tissues. A similar observation was also made with total RNAs levels. (4) The specific activity of malic enzyme and glyceraldehyde-3-phosphate dehydrogenase was markedly reduced in the liver and pectoral muscle of the treatment group but was not affected in other tissues. The specific activity of 6-phosphogluconate dehydrogenase was significantly lower in the liver only, and that of lactic dehydrogenase and acetylcholinesterase was not affected in any of the tissues examined. (5) The results suggest that the metabolic actions of 3-acetylpyridine are quite distinct from those shown by niacin deficiency and its analog such as 6-aminonicotinamide.
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PMID:Effects of the neurotoxin 3-acetylpyridine on levels of soluble proteins and enzyme activities in various tissues of Japanese quail. 967 82


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