Apolipoprotein E2-Christchurch (136 Arg----Ser). New variant of human apolipoprotein E in a patient with type III hyperlipoproteinemia.

The primary structure of apolipoprotein E (apo E) was investigated in seven type III hyperlipoproteinemic patients with the apo E-2/2 phenotype. Six of the patients had identical two-dimensional tryptic peptide maps. These differed from the normal apo E3 map by the altered mobility of a single peptide.

Trends in blood lead levels in Christchurch (NZ) and environs 1978-85.

Blood lead levels have been monitored since 1974 and have shown a significant decrease (p less than 0.001) from 1978 to 1985 in 2830 subjects from Christchurch and environs. From a baseline in August 1978-81 to August 1985 blood lead levels in a population which had no relevant exposure to lead other than that from the general environment have fallen in adult males and females (greater than 17 years) by 42%, and in school and pre-school children greater than 9 months by 44% and 46% respectively.

Familial type V hyperlipoproteinaemia in identical twins homozygous for apoliprotein variant E2: report.

Hyperchylomicronaemia and elevated very low density lipoproteins were found in relatively obese 47 year old identical twin brothers. Lipoprotein apoprotein studies showed the presence of apoprotein CII, the activator of lipoprotein lipase, and both men were homozygous E2/2. Studies on the ability of the brothers to clear triglyceride rich particles showed some impairment of post heparin lipase activity, and a slower clearance of infused fat emulsion.

Apolipoprotein E phenotypes in hyperlipidaemic patients and their implications for treatment.

Apolipoprotein E phenotypes were determined on 417 consecutive lipid clinic patients using an isoelectric focussing technique. Of the 15 patients with phenotype E2/2, 13 (3.1%) had type III hyperlipoproteinaemia and 2 obese identical twins had type V.

Vesicoureteric reflux: segregation analysis.

Complex segregation analysis was applied to data from 88 families containing at least one person with vesicoureteric reflux. Analysis showed that a single major locus was the most important causal factor in this condition, with the mutant allele being dominant to the normal allele and having a gene frequency of about 0.16%.

Smoking, lung function, and alpha 1-antitrypsin deficiency.

From 1970 to 1983, 69 individuals (aged from infancy to 87 years) with homozygous alpha 1-antitrypsin deficiency (ZZ) were followed up. 12 had liver disease. Amongst the 33 patients with emphysema mean age of onset of dyspnoea in smokers (32 years) was significantly lower than that in non-smokers (51 years).

Industrial lead exposure: a review of blood lead levels in South Island industries, 1974-83.

Relative risks of increased lead absorption found in 31 occupations were investigated. Serial red cell lead measurements on 1319 males and 186 females provided a mean and range for each occupational type. The magnitude of the mean and percentage of raised levels identified the degree of occupational risk.

A register of individuals with inborn errors of lipoprotein metabolism and their families.

One hundred and fifty-five hyperlipidaemic families resident in the Christchurch and Dunedin areas were included on a computerised register with built in confidentiality safeguards. Investigation of the relatives of the 155 probands identified 519 with normal lipids and a further 381 with hyperlipidaemia. The presence of 536 hyperlipidaemic individuals in the population of the two areas indicates a frequency of at least 0.

Hyperbetalipoproteinaemia and hyperalphalipoproteinaemia in a single family.

Twelve members of a kindred were studied of whom six showed elevated low-density lipoprotein (LDL) cholesterol levels. Within the blood related group nine showed elevated high density lipoprotein (HDL) cholesterol levels and correspondingly elevated HDL lipoprotein apoprotein levels. The members with elevated LDL also therefore had elevated HDL.

Modes of action of lipid-lowering diets in man: studies of apolipoprotein B kinetics in relation to fat consumption and dietary fatty acid composition.

The mechanisms by which dietary fat influences fasting plasma lipid concentrations have been investigated in hyperlipidaemic subjects. The synthetic and fractional catabolic (FCR) rates of the apoprotein B (apo B) of very-low density (VLDL) and low-density (LDL) lipoproteins were measured using radioiodinated autologous lipoproteins. Reductions of LDL concentration in eight subjects during low-fat (25% of energy) diets were largely explained by diminished synthesis (-20%, P less than 0.

Genetic variation in human apolipoprotein E.

Genetic variation in human apoprotein E was studied using the technique of isoelectric focusing applied to delipidated very low density lipoprotein from 426 Christchurch blood donors and 7 patients with type III hyperlipoproteinemia. Six phenotypes were distinguishable by the relative proportions of the apoprotein E isomers. In the blood donors, observed frequencies for these were: E3/3 = 51.

In vitro synthesis of M and Z forms of human alpha 1-antitrypsin.

mRNA was prepared from autopsy liver samples from a homozygote for alpha 1-antitrypsin deficiency (PiZZ) and from a normal (PiMM) subject. Both preparations gave equivalent synthesis of alpha 1-antitrypsin in a wheat germ cell-free system. This suggests that the deficiency of plasma alpha 1-antitrypsin associated with the Z variant is due to a failure of processing and secretion of the protein rather than of its synthesis.

Kinetic bases of the primary hyperlipidaemias: studies of apolipoprotein B turnover in genetically defined subjects.

Autologous 131I-labelled very low density lipoprotein (VLDL) and 125I-labelled low density lipoprotein (LDL) were injected into seven normal subjects and into forty-three hyperlipidaemic patients, classified into groups on the basis of family studies and clinical findings, to quantitate VLDL and LDL apolipoprotein B kinetics. In normal subjects, mean VLDL-B peptide synthetic rate was 15 . 1 mg kg-1 day-1, mean LDL-B peptide synthetic rate 7 .

Quantitative studies of very low density lipoprotein: conversion to low density lipoprotein in normal controls and primary hyperlipidaemic states and the role of direct secretion of low density lipoprotein in heterozygous familial hypercholesterolaemia.

Autologous 131I-labelled very low density lipoprotein (VLDL) and 125I-labelled low density lipoprotein (LDL) were injected into seven normal subjects and twenty-eight genetically classified hyperlipidaemic patients to quantitate lipoprotein interconversion. The apoprotein B specific activity--time curves for VLDl and intermediate density lipoprotein (IDL, density = 1 . 006--1 .

Lipodystrophy with hyperlipidaemia: the role of insulin in very low density lipoprotein over-synthesis.

A patient with partial lipodystrophy is described in whom hypertriglyceridaemia was accompanied by marked hyperinsulinaemia. The hyperlipidaemia was due to increased plasma levels of very low density lipoprotein (VLDL). Kinetic studies, performed after injection of autologous radioiodinated VLDL, indicated that the raised VLDL levels were associated with over-production of this lipoprotein.