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Biomedical subjects

E C Klasen

Publications and source records attributed to E C Klasen.

At least 37 records · Page 2Linked to original sources
PubMed1988

Alpha-1-antitrypsin phenotypes and serum concentrations in duodenal ulcer patients in The Netherlands.

Hereditary alpha 1-antitrypsin (alpha 1-AT) deficiency has been suggested to be associated with peptic ulcer disease. Since the serum concentration of the enzyme is the result of both hereditary and nonhereditary factors, we have studied not only the serum levels but also the alpha 1-AT electrophoretic variants in 177 Dutch patients with duodenal ulcer disease and compared with 357 healthy blood donors. No relation was found between any of the alpha 1-antitrypsin phenotypes and duodenal ulcer disease. Serum levels of alpha 1-AT were significantly higher than in the controls in the patients. This study does not support an association between hereditary alpha 1-AT deficiency and duodenal ulcer disease, and makes therefore a possible role of such a deficiency in the etiology of peptic ulcer disease highly unlikely.

Duodenal Ulcer↗
PubMed1988

The flaccid lung syndrome and alpha 1-protease inhibitor deficiency.

We examined breathing mechanics and alpha 1PI deficiency in 1,850 unrelated male subjects with various lung complaints. The loss in lung elasticity appeared to be significantly more pronounced in ZZ individuals as compared to MM, MS and also MZ individuals. The MZ group did not differ significantly in this respect from MM individuals. This implies that the excess risk of developing a flaccid lung (C greater than 1 kPa-1) due to the partial alpha 1-antitrypsin deficiency is negligible. PI MZ and PI ZZ frequencies are significantly higher in the population with flaccid lung compared to control subjects. Furthermore, it was found that the increase in residual volume in smokers is independent of the PI type.

Elasticity↗
PubMed1987

A common restriction fragment length polymorphism of the human apolipoprotein E gene and its relationship to type III hyperlipidaemia.

We report a common DNA polymorphism of the apolipoprotein E (apoE) gene detected with the enzyme HpaI. In an individual who is heterozygous for the polymorphism, two hybridising fragments of DNA, one of 50 kb (the H1 allele) and one of 20 kb (the H2 allele) are detected. In 54 controls the frequency of the rare allele is 0.38 (PIC value 0.36). We have also studied the frequency of the polymorphism in normolipidaemic and hyperlipidaemic individuals whose apo E protein typing is known. In 39 individuals with type III hyperlipidaemia and the apo E phenotype E2E2, the frequency of the H2 allele is 0.97. In contrast, the frequency of the H2 allele in normolipidaemic individuals with the E2E2 phenotype is closer to that found in the general population. Possible explanations for this are discussed.

Apolipoproteins E↗
PubMed1987

Familial dysbetalipoproteinemic subjects with the E3/E2 phenotype exhibit an E2 isoform with only one cysteine residue.

Most familial dysbetalipoproteinemic patients are E2/E2 homozygotes for the apolipoprotein E (apoE) polymorphism, whereas patients with the E4/E2 or E3/E2 phenotype are very rare. Three out of 41 dysbetalipoproteinemic patients from our lipid clinic appeared to be E3/E2 heterozygotes. ApoE protein phenotyping and DNA oligonucleotide hybridization techniques showed that all three patients exhibit an uncommon E2 variant that contains only one cysteine residue. These results suggest that, in contrast to the by far most frequently occurring E2(Arg158----Cys) allele, heterozygosity for this uncommon E2 allele may cause familial dysbetalipoproteinemia. Preliminary family studies suggest that this uncommon E2 allele cosegregates with familial dysbetalipoproteinemia.

Apolipoproteins E↗
PubMed1987

Apolipoprotein E phenotype and gene distribution in The Netherlands.

2,000 male individuals randomly selected from three different areas in The Netherlands were phenotyped for apolipoprotein E. The apolipoprotein E gene frequencies and phenotype distribution did not differ significantly from that of previously studied populations, with one exception: the epsilon 4 frequency was significantly lower than that in the Finnish population.

Adult↗
PubMed1986

Alpha 1-antitrypsin deficiency and the flaccid lung syndrome. The heterozygote controversy.

A significantly higher number of PI ZZ and PI MZ individuals was found in a flaccid lung population as compared to internal and healthy controls. The relative risk for ZZ is 12.5 and for MZ 1.8. We conclude that if a PI MZ individual does develop lung disease, the excess risk due to the deficiency is negligible compared to MM individuals and is highly influenced or modified by other factors, possibly including both environmental and genetic.

Disease Susceptibility↗
PubMed1985

The alpha 1 antitrypsin variant PI WFINNEYTOWN in a family of Caucasian origin.

During a routine screening a slow moving variant PI WFINNEYTOWN was traced in a family of Caucasian origin. The variant is not identical to W SAL and W COL. W FIN was originally detected in an American family of different ethnic origin. It is suggested that heterogeneity exists at the gene level, which is not detectable with conventional methods at the protein level.

Female↗
PubMed1985

Alpha 1-antitrypsin deficiency and PI typing in patients with chronic urticaria.

A group of 281 patients with chronic urticaria was classified into various subtypes and compared with 357 healthy controls for PI types of alpha1-antitrypsin. Total alpha 1-antitrypsin was measured by the Mancini technique, and PI types were determined by isoelectric focusing. The MZ phenotype and the Z gene frequency were significantly more frequent in the urticaria group. The Z gene predominated in the groups with cold urticaria and acquired angio-oedema. The total group of chronic urticaria patients showed a significant decrease in total alpha 1-antitrypsin compared with the control group (P less than 0.03). Deficiencies in alpha 1-antitrypsin may predispose to the development of certain types of urticaria and angio-oedema.

Angioedema↗
PubMed1985

Characterization of a low molecular weight anti-elastase isolated from human bronchial secretion.

An elastase-specific, low molecular weight inhibitor was isolated from human bronchial secretions that is able to inhibit porcine pancreatic elastase and human granulocyte elastase (Ki = 1.0 X 10(-9) M) but not bovine pancreatic trypsin or human cathepsin G. Under dissociating conditions the inhibitor has a molecular weight of 5000, whereas 10,000 mol. wt. was found for the native protein. The inhibitor was quantified by an enzyme-linked immunosorbent assay using an antiserum prepared in rabbits. In 16 acid-treated sputum samples, the inhibitor was present at concentrations of 1.8 +/- 1.2 microgram/ml (means +/- SD), whereas only trace amounts were detectable in serum. These quantitative results suggest a local production of the inhibitor in the lung.

Amino Acids↗
PubMed1984

Genetic aspects of erythropoietic protoporphyria.

An exhaustive study of erythropoietic protoporphyria in the Netherlands led to the discovery of 200 patients with this disorder in 91 families. In 46 of these families a single patient occurred. A study of parents, sibs and children led to the conclusion that the disease of erythropoietic protoporphyria is inherited as an autosomal recessive disorder. The presence of an occasional fluorescent red blood cell combined with normal protoporphyrin levels was observed in half of the children and sibs of patients and one of their parents; this phenomenon is therefore inherited as an autosomal dominant character. From an analysis of the findings in the 91 families we put forward the hypothesis of a 3-allele system.

Adolescent↗
PubMed1984

Alpha 1-antitrypsin serum concentration and phenotypes in ulcerative colitis.

96 unrelated patients suffering from ulcerative colitis were typed for the electrophoretic variants of alpha 1-antitrypsin (alpha 1-AT). None of the phenotypes showed a definite association with this condition. The serum concentration of alpha 1-AT was increased compared with healthy control subjects. There was a positive correlation between the serum concentration of alpha 1-AT and activity of the ulcerative colitis.

Adolescent↗
PubMed1982

PI (alpha 1-Antitrypsin) subtypes: frequency of PI*M4 in several populations.

Sera from different populations (Dutch, Northern and Southern Italians and Spaniards) were screened for PI (alpha 1-antitrypsin) types and subtypes. A polyacrylamide isoelectric focusing method was applied, which consisted of the combined use of an ultra-thin highly cross-linked gel, restricted pH range carrier ampholytes and a separator. This technique enabled easy typing and subtyping of all known PI phenotypes including PI*M subtypes. The frequency of the new PI*M4 allele was lowest of all PI*M alleles (0.0476 in The Netherlands, 0.0371 in Northern Italy, 0.0308 in Southern Italy and 0.0146 in Spain).

Alleles↗
PubMed1982

Two peptides released in the complex formation of alpha 1-antitrypsin with beta-trypsin; evidence for two structurally identical, inhibitory sites in alpha 1-antitrypsin.

The exact mechanism of action of alpha 1-antitrypsin, the major protease inhibitor in human serum, is still unknown. Several investigators report the release of a small peptide during complex formation of alpha 1-antitrypsin with various proteases. In this study the release of two peptides each from the NH2- and the COOH-terminal regions of alpha 1-antitrypsin is demonstrated, indicating the presence of two inhibitory sites in alpha 1-antitrypsin. The amino acid sequence near the NH2-terminal inhibitory site is determined to be X-Ser-Ile-Pro-Pro- and near the COOH-terminal inhibitory site Y-Ala-Ile-Pro-Met-Ser-Ile-Pro. The combined results of the present report and several other reports indicate the presence of two structurally identical inhibitory sites in alpha 1-antitrypsin located at both terminal regions in the molecule.

Amino Acid Sequence↗
PubMed1981

Alpha 1-antitrypsin in patients with hepatocellular carcinoma and chronic active hepatitis.

Forty-seven Italian patients suffering from hepatocellular carcinoma (HCC) and 58 patients with chronic active hepatitis (CAH) were screened for alpha 1-antitrypsin (alpha 1 AT) levels and types and compared with a previously screened healthy Italian population. Serum alpha 1 AT concentrations were significantly raised among the HCC patients compared to the controls, whereas the CAH group showed no differences. The incidence of non-M phenotypes (MS, MZ and S) is significantly higher in patients with HCC than in the CAH group and the controls. The mean age of HCC patients with a non-M phenotype is significantly lower than the mean age of HCC patients with an M phenotype.

Adult↗