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Biomedical subjects

H W Goedde

Publications and source records attributed to H W Goedde.

At least 127 records · Page 7Linked to original sources
PubMed1982

In vitro effect of haloperidol, chlorpromazine, imipramine and lithium on the erythrocyte catechol-O-methyltransferase.

Haloperidol, chlorpromazine, imipramine and lithium in concentrations similar to the average therapeutic plasma levels did not exert any in vitro inhibition on the erythrocyte catechol-O-methyltransferase (COMT). The inhibitory effects of haloperidol, chlorpromazine and imipramine were noted first at concentrations 1000-10 000 times their respective average therapeutic plasma levels. Unlike the former three psychotropic drugs, lithium exerted an in vitro inhibition already at a concentration 40 times the average therapeutic plasma level and that in a competitive way. The inhibitory effect of lithium could be neutralized by increasing the magnesium concentration, likewise in a competitive way.

Catechol O-Methyltransferase↗
PubMed1981

[Investigation of a variant form of hypoxanthine-phosphoribosyl transferase in a family (author's transl)].

In a family study with two patients showing hyperuricaemia, discrete neurological symptoms, as well as gouty arthritis in the older proband, hypoxanthine phosphoribosyl transferase (HPRT) and adenine phosphoribosyl transferase (APRT) were determined in haemolysates and fibroblast extracts. 6 normal subjects and 3 patients with the Lesch-Nyhan syndrome were examined as controls. Reduced HPRT activity by 18% and 12% in the proband and his nephew, respectively, together with an increase to values of 206% and 113% in APRT activity was observed in haemolysates. In fibroblasts the HPRT activity was reduced to 40--43%, but the APRT activity was within the normal range. The studies indicate the presence of a possible variant form of HPRT in these patients.

Adenine Phosphoribosyltransferase↗
PubMed1981

Hereditary ataxia and the sixth chromosome.

Possible linkage of the gene or genes for dominant hereditary ataxia and three genetic markers on the short arm of the sixth chromosome (HLA, properdin factor B [Bf], and glyoxalase I) was investigated in five families. Logarithmic odds (lod scores) were calculated for the linkages and found to be either inconclusive or in favor of nonlinkage. Caution is advised in the summing of lod scores for separate families because of the wide spectrum of clinical and anatomical manifestations of dominant hereditary ataxia. Three families with recessive hereditary ataxia were also studied. Identical haplotypes occurred in affected and unaffected siblings. It did not appear likely that the recessive genes of the parents were transmitted in linkage with the markers on the short arm of the sixth chromosome.

Ataxia↗
PubMed1981

A radioenzymatic assay of catechol-O-methyltransferase in hair root cells: comparison with erythrocyte activity.

A sensitive radioenzymatic assay of catechol-O-methyltransferase (COMT) in hair root cells is presented. Only five hair roots with intact bulb and sheath are needed for one assay. By pulling 15-20 hairs, 3-4 parallel assays can be performed. As in erythrocytes the COMT activity in hair root cells is constant for each individual. Nevertheless, there is no high correlation between the enzyme activities in erythrocyte and in hair root cells (r = 0.26, 0.1 greater than P greater than 0.05, N = 46). The determination of COMT in hair root cells offers a further application of this source in genetic research, as in the study of a correlation between COMT activity and various endogenous psychiatric disorders.

Adult↗
PubMed1981

Phenotypic interaction studies of HPRT mutant and normal human fibroblasts.

Hypoxanthine incorporation was studied in growing HPRT mutant cells by preincubating them with extracts from normal cells, HPRT mutant cells, and extracts of their lyophilized cell sediment. HPRT mutant cells showed no increase of hypoxanthine uptake after preincubation with extracts of mutant cells, whereas after preincubation with extracts from normal cells and lyophilized sediment of HPRT mutant cells the incorporation rate was increased. This effect could not be observed when normal cells were preincubated with extracts of lyophilized sediments of normal cell lines.

Cell Line↗
PubMed1981

A search for the Indianapolis-variant of human alcohol dehydrogenase in liver autposy samples from North Germany and Japan.

Human liver alcohol dehydrogenase (ADH) variants were screened in random autopsy specimens from 53 North German and 34 Japanese individuals. Based on pH-activity profile and electrophoretic pattern, only ADH2 and ADH3 variants were detected. In relatively fresh specimens, an "anodic band" or "pi-ADH" band was also observed. The recently reported new molecular forms collectively called "ADH Indianapolis" (Bosron et al. 1980) could not be demonstrated and therefore may be confined hitherto only to the American black population.

Alcohol Oxidoreductases↗
PubMed1981

High-resolution protein mapping of human fibroblasts and hair root cells: a standardized reproducible procedure considering the effect of cell culture parameters.

The effect of different cell culture parameters on two-dimensional polypeptide maps of human fibroblasts is considered. Improved culture methods are introduced to get better resolution and reproducibility. Based on these investigations, highly standardized techniques for the protein mapping of this tissue and also of hair root cell lysates are presented. These methods seem to be quite suitable for analysis of cellular synthesized proteins and study of variability in normal subjects and in patients with genetic disorders.

Chromosome Mapping↗
PubMed1981

Analysis of inborn errors of metabolism and other genetic defects in human fibroblasts using two-dimensional polypeptide mapping.

A standardized technique for the two-dimensional polypeptide mapping of cultured human fibroblasts has been used for the study of cellular protein variations in healthy controls, patients with inborn errors of metabolism and some other genetic defects. The analysis of about 50 gels has established that this method is very reproducible and enables the examination of about 600 polypeptides in a single gel. The inter-individual variation has been rather low (about 3%). In the gels from patients with genetic defects only very minor qualitative variations have been observed.

Ataxia↗
PubMed1981

Studies on the change of electrophoretic mobility and the decay of catalytic activity of brain-type creatine kinase isoenzyme (CK-BB) following incubation at 37 degrees C.

Incubation of CK-BB in serum (1:3, v/v) at 37 degrees C for 3 h caused a change of its electrophoretic mobility and decay of its catalytic activity. Similar effects were observed following incubation in water. Incubation in saline somehow preserved the electrophoretic mobility but not the catalytic activity. No effect was noted when incubated at 4 degrees C for 3 h. Further study on the rate of decay revealed that the decay in albumin solution (1:50, v/v) is quite similar to that in serum. More dramatic decay was noted when incubated in water and less when incubated in saline. It was further shown that the higher the incubation temperature (4 degrees C, 25 degrees C or 37 degrees C) the faster the decay. The rate of decay of CK-MM was much slower in all conditions of incubation. Determination of isoenzyme activities by means of an immunoprecipitation method again demonstrated that CK-BB lost a great deal of its catalytic activity following incubation at 37 degrees C for 1 h, and hence falsification of the isoenzyme pattern.

Antigen-Antibody Complex↗
PubMed1981

Catechol-O-methyltransferase of erythrocytes in patients with endogenous psychoses.

A significant decrease in catechol-O-methyltransferase (COMT) activity of erythrocytes was found in both male and female schizophrenic patients, as well as in male patients with schizophreniform psychosis. Among control subjects, a sex difference in COMT activity of erythrocytes was found, with males showing significantly higher activity than females. It is suggested that a genetically determined deficiency of catecholamine degradative enzymes in the central nervous system or, alternatively, influences of nongenetic hormonal factors could be implicated in the findings of altered erythrocyte COMT activity reported.

Adult↗
PubMed1981

High resolution protein mapping in fibroblast cell lines and hair roots from patients with genetic disease.

Protein patterns of cultured fibroblast and hair root lysates from healthy controls and patients with genetic diseases (Duchenne muscular dystrophy, Friedreich's ataxia, Marie's ataxia, Lesch-Nyhan syndrome, maple syrup urine disease, and trisomy 13, 18 and 21) were obtained with two-dimensional electrophoresis. The analysis of these patterns in 39 gels by visual comparison revealed differences in the presence and absence of 20 specific protein spots. However, this variability, which has been observed in healthy controls as well as in patients, could not provide a diagnosis for a specific genetic disease. Only in one case - trisomy 18 - was an additional spot observed, which was not present in any of the other gels.

Cell Line↗
PubMed1981

Racial differences in biological sensitivity to ethanol: the role of alcohol dehydrogenase and aldehyde dehydrogenase isozymes.

Electrophoretic and kinetic studies of autopsy liver specimens from individuals of different racial groups revealed a polymorphism in alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH). About 85% of the Japanese livers had an atypical ADH and 52% of the livers an unusual ALDH. Only 13% of German liver specimens had the atypical ADH and none showed the unusual form of ALDH which lacks in the isozyme with low Km for acetaldehyde. Using hair roots as the source of ADH and ALDH, individuals showing sensitivity to ethanol were examined. Data on the distribution of phenotypes in random European and Japanese population as well as family studies suggest a direct relationship between the lack of low Km isozyme of ALDH and alcohol-induced biological sensitivity. Our findings suggest that the alcohol sensitivity quite common in individuals of Mongoloid origin might be due to delayed oxidation of acetaldehyde by an unusual type of ALDH.

Alcohol Oxidoreductases↗
PubMed1981

[Alcohol metabolizing enzymes: biochemical properties, genetic heterogeneity and their possible role in alcohol metabolism in humans (author's transl)].

Recent studies on the polymorphism of alcohol dehydrogenase and aldehyde dehydrogenase indicate a possible implication of enzyme variants in the metabolism and effects of ethanol. The development of highly sensitive analytical methods enabled us to study isozymes of alcohol dehydrogenase and aldehyde dehydrogenase in various organ extracts, skin, fibroblast and hair root lysates. The results of family and population genetic studies in different racial groups led to a hypothesis, which may explain the observed high incidence of alcohol sensitivity among Mongoloid populations.

Alcohol Dehydrogenase↗
PubMed1980

[Prenatal diagnosis of alpha-1-antitrypsin phenotype. Case record and prognosis in severe alpha-antitrypsin deficiency Pi ZZ (author's transl)].

A mother had a child with cirrhosis of the liver and alpha-1-antitrypsin deficiency. In a subsequent pregnancy the fetal phenotype Pi MZ was detected by isoelectrofocusing in the amniotic fluid. Quantitative assay of alpha-1-antitrypsin gave results in the normal range. Umbilical vein blood analysis confirmed the antenatal findings. In this case it has been possible to rule out the disease before birth. In this context the clinical importance of alpha-1-antitrypsin deficiency is stressed, its frequency in the European and North-American population and the prognosis with phenotype Pi Z.

Female↗