Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.6.1.2 (alanine aminotransferase)
 26,722 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

5 serum protein polymorphic systems (haptoglobin, alkaline phosphatase, group-specific (Gc) proteins, beta2-glycoprotein 1 and leucine aminopeptidase) and 6 red-cell polymorphisms (adenosine deaminase, adenylate kinase, phosphoglucomutase, glutamic-pyruvic transaminase, phosphogluconate dehydrogenase and acid phosphatase) have been investigated in 54 subjects with tuberous sclerosis. The frequencies of all systems were compared with those of a control sample drawn from a similar mentally retarded population and abnormal distributions were detected in the haptoglobin and Gc system. Quantitative estimation of the serum levels of the Gc protein failed to detect any inter-group differences. Data on the deviations from the Hardy-Weinberg equlibrium, Haldane's Log ratio test between groups, and gene frequencies of both test and control groups are given. It is suggested that selection by mortality is the possible causation for the abnormal distribution of the Gc phenotypes, but the haptoglobin phenotype distribution requires further investigation with care being taken in the selection of control subjects.
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PMID:Serum and tissue proteins in tuberous sclerosis. I. Serum and red-cell polymorphic systems. 16 11

During 1981-1982 and 1983-1984 a population-genetic study has been performed in the Amhara/Tigrai ethnic groups of Northwestern Ethiopia (Gondar). Blood group frequencies are reported for 6 systems (AB0, MNSs, Rh, P, Kell, Kidd), secretor status, haptoglobin, Gc, Gm/Km, HLA-A and -B as well as for the erythrocytic enzyme polymorphisms AcP, PGM1, ADA, EsD, GPT, AK and GLO I. The results are compared with other reports from East Africa and the Arabian peninsula. The mixed caucasoid-negroid gene pool of the Amhara/Tigrai as well as their relations with Arabia are confirmed.
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PMID:[Population genetic studies in Ethiopia: distribution of blood group polymorphisms in Amhara/Tigrai ethnic groups]. 309 63

Time-and cost-saving methods for paternity testing are described. Seventeen genetic systems were divided into six groups: (1) transferrin (Tf), factor B (Bf), and phosphoglucomutase 1 (PGM1); (2) group-specific component (Gc) or alpha 1-antitrypsin (PI) and alpha 2HS-glycoprotein (HSGA); (3) complement components C6 and C7, factor 13B (F13B), and plasminogen (PLG); (4) haptoglobin (Hp), C8 alpha-gamma chain (C81), and factor I (IF); (5) red cell acid phosphatase (ACP), esterase D (ESD), and glutamic-pyruvic transaminase (GPT); and (6) 6-phosphogluconate dehydrogenase (PGD) and glyoxalase I (GLO). Each group of systems was typed simultaneously by electrophoresis or isoelectric focusing (IEF) followed by staining or immunoblotting. These methods are very practical because they afford a considerable saving of time, work and expense, and facilitate semipermanent preservation of electrophoretic patterns.
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PMID:Simultaneous phenotyping of genetic markers for paternity testing. 348 Jun 66

Low plasma haptoglobin values have been observed in hemophilia A patients on regular prophylactic treatment with factor VIII concentrates. Two of 3 patients treated with fraction I-0 (Kabi) and 7 of 11 patients treated with high-purity concentrates (Hyland) had low haptoglobin values. Four of 8 patients who were treated with high-purity concentrates prescreened for a low content of anti-A and anti-B immunoglobulins still showed low haptoglobin levels. Unexpectedly, 2 patients of blood group 0 showed low haptoglobin values. The presence of irregular erythrocyte alloantibodies and/or other contaminants of the concentrates might thus also be a cause of hemolysis resulting in an increased consumption of haptoglobin. Elevated lactate dehydrogenase levels were also frequent. No correlations were found between albumin, aspartate or alanine aminotransferase levels and haptoglobin levels.
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PMID:High frequency of low plasma haptoglobin values found in hemophilia A patients on prophylactic treatment with factor VIII concentrates - a sign of hemolysis? 679 43

Blood concentrations of six acute phase reactants (ESR, neutrophil count, fibrinogen, haptoglobin, alpha 1-antitrypsin, and ferritin), parameters of muscle necrosis (myoglobin, CK, ALT, and AST) as well as hemopexin, iron, and TIBC were determined before and for 7 consecutive days after muscle biopsy in patients and in a control group. A muscle biopsy was chosen as a standardized surgical procedure that induces a mild transient inflammatory response. After muscle biopsy, a significant increase occurred in five (ESR, neutrophil count, fibrinogen, haptoglobin, and alpha 1-antitrypsin) of the six acute phase reactants. The concentration of serum ferritin did not show a significant change. A significant decrease was noted in the serum iron concentration and a significant increase occurred with CK and myoglobin secondary to the muscle biopsy. Thus the inflammation of a muscle biopsy produces a significant acute phase reaction.
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PMID:Quantification of acute phase reactants after muscle biopsy. 711 53

Three hundred and two consecutive patients who had undergone cardiac operation for various cardiac lesions were studied prospectively to evaluate the incidence, risk factors, and the associated mortality of postoperative hyperbilirubinemia after cardiopulmonary bypass. Concentrations of the serum total (conjugated and unconjugated) bilirubin, alanine aminotransferase, aspartate aminotransferase, lactate dehydrogenase, alkaline phosphatase, albumin, globulin, and serum haptoglobin were measured before the operation and again on the first, second, and seventh postoperative days. Postoperative hyperbilirubinemia was defined as occurrence of a serum total bilirubin concentration of more than 3 mg/dl in any measurement during the postoperative period. Logistic regression was done to identify possible risk factors for postoperative hyperbilirubinemia. Overall incidence of postoperative hyperbilirubinemia was 35.1%; the incidence of postoperative hyperbilirubinemia was higher in patients whose valves were replaced with mechanical prostheses than in those without prostheses (p < 0.00001). In patients with postoperative hyperbilirubinemia, 70% of the increase of total bilirubin on the first postoperative day came about from an increase in unconjugated bilirubin. Serum haptoglobin decreased significantly at the same time (p < 0.01). Development of the postoperative hyperbilirubinemia was associated with a higher mortality (5.6% versus 0.5%, p < 0.01) and higher frequency of use of intraaortic balloon counterpulsation, especially for patients in whom the highest postoperative total bilirubin occurred after the first 2 days. The numbers of valves replaced, preoperative right atrial pressure, and preoperative total bilirubin concentration are the significant risk factors that, in combination, correctly predict the occurrence of postoperative hyperbilirubinemia in 80% of the patients. We concluded that postoperative hyperbilirubinemia results mainly from an increase in unconjugated bilirubin and is associated with higher mortality, especially for patients in whom highest postoperative total bilirubin occurred late after operation. Patients with the higher preoperative right atrial pressure and total bilirubin level who then underwent multiple valve replacement procedures are at greater risk for development of postoperative hyperbilirubinemia.
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PMID:Hyperbilirubinemia after cardiac operation. Incidence, risk factors, and clinical significance. 766 5

This study was undertaken to determine the effects of long-distance running on serum bilirubin fractions. Thirteen male ultramarathon runners participating in a 100-km race volunteered for the study. Venous blood samples were obtained shortly before and immediately after the race. Decreased serum haptoglobin levels (-66%) indicated the presence of hemolysis. After accounting for plasma-volume loss, significant post-race increases were found for creatine kinase (+20-fold), creatine kinase-MB (+252%), alanine aminotransferase (+42%), aspartate aminotransferase (+193%), gammaglutamyl transpeptidase (+56%), and glutamate dehydrogenase (+58%) serum activities, suggesting that running causes alterations of both muscle and liver tissues. Serum concentration of total bilirubin was significantly elevated (+106%) following the race, with changes corresponding to both unconjugated (+96%) and conjugated esters (+283%) of the pigment and significant increases in the ratio of esterified to total bilirubin. Our data show that long-distance running causes increases in the different serum bilirubin fractions which can be accounted for both hemolysis and hepatic disturbances.
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PMID:Effects of long-distance running on serum bilirubin. 861 12

Chronic liver damage induced by thioacetamide (TAM) was accompanied by changes in the expression of genes related to growth (beta-actin) and function (albumin and haptoglobin) of the liver. Their messenger RNA (mRNA) levels increased during the first days after TAM administration, but 4 to 7 days after prolonged treatment with this drug, liver gene expression was considerable decreased. TAM-induced changes in albumin and beta-actin mRNA levels were prevented by cotreatment with S-adenosyl-L-methionine (SAM). We have investigated the possible involvement of glutathione in the protective mechanism of SAM. Firstly, we found that TAM treatment in the rat induced changes in liver glutathione disulfide (GSSG) levels, with a concomitant increase in the glutathione reductase enzymatic activity, these changes being abolished when animals were cotreated with TAM and SAM. Secondly, when rats were pretreated with buthionine sulfoximine (BSO), a glutathione synthesis inhibitor, before thioacetamide administration, the beneficial effect of SAM on liver gene expression was completely abolished. These results were confirmed by assaying the alanine transaminase serum activity, a parameter of liver injury. TAM-treated animals had increases in this serum enzyme, this effect being partially blocked by SAM. However, in BSO-pretreated rats, the protective effect of SAM was impaired. Taking together all these results, we propose a glutathione-dependent mechanism in the SAM protection against TAM hepatotoxicity in the rat.
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PMID:Changes in rat liver gene expression induced by thioacetamide: protective role of S-adenosyl-L-methionine by a glutathione-dependent mechanism. 861 42

The stage of human African trypanosomiasis (HAT) is important to define precisely as far as it is directly related to the type of treatment used. The beginning of the neurological involvement is difficult to find out because there is no known specific clinical or biological sign. This study is trying to look for a precise marker and has been realized in Congo. 70 subjects with parasitologically confirmed HAT and 70 controls are included. The stage of HAT is determined according to the classical definition on the field using the cerebrospinal fluid (CSF) cell count: less than 5 cells/microliters for the first stage (P1), more than 5 cells/microliters for the second stage (P2). The blood analysis has included: glucose, urea, creatinine, sodium, potassium, calcium, chloride, phosphorus, uric acid, total bilirubin, unconjugated bilirubin, total cholesterol, triglycerides, total proteins, aspartate aminotransferase, alanine aminotransferase, creatinine phosphokinase, alkaline phosphatase, gamma-glutamyltransferase, immunoglobulins M and G, C3c fraction of complement, transferrin, seromucoid alpha 1, haptoglobin and albumin. In CSF we have analyzed IgM, IgG, protein levels and the bloodbrain barrier (BBB) impairment. The comparison between the subjects and their controls, the subjects in P1 and in P2, the CSF cell count and the other CSF alterations show the interest of the IgM level in CSF and the BBB impairment to identify subjects in P2. However there is a low gradation in the biological disturbances and not a precise threshold point. Nevertheless it seems reasonable to raise the CSF cell count level to 20 cells/microliters to define the beginning of the nervous involvement.
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PMID:[Contribution of biochemical tests in the diagnosis of the nervous phase of human African trypanosomiasis]. 950 61

A 16-year-old girl was admitted for a detailed examination of hemolytic anemia in November 1995. Initial laboratory findings included a total bilirubin concentration of 1.46 mg/dl, hemoglobin of 9.1 g/dl, and a reticulocyte count of 89/1000 percent. The plasma haptoglobin concentration was below 10 mg/dl. A blood smear showed many dacryocytes and a few echinocytes and codocytes. GOT was 71 IU/l; GPT, 44 IU/l; and LDH, 812 IU/l; the results of a hepaplastin test were 45% of normal. On further investigation, the level of serum ceruloplasmin was found to be 4 mg/dl, and of serum copper, 43 micrograms/dl. Urinary copper excretion was markedly increased, at 345 micrograms per day. Slit-lamp examination of both corneas revealed obvious Kayser-Fleischer rings. A liver biopsy sample showed fibrosis histologically and an elevated copper concentration of 535 micrograms/g dry weight and 183 micrograms/g wet weight. In family studies, the patient's asymptomatic 5-year-old sister was observed to have metabolic abnormalities consistent with Wilson's disease. These findings suggested that the patient's hemolytic anemia with red cell deformities was due to abnormal copper metabolism associated with Wilson's disease.
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PMID:[Severe hemolytic anemia with tear drop red cells as initial manifestation of Wilson's disease]. 979


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