Estimations of serum copper, serum ceruloplasmin (immunochemical), and urinary amino-acids excretion (quantitative and chromatographic) in 44 healthy relatives of patients with Wilson's disease (39 from one family) are reported. Each technique revealed some abnormal individuals. Good agreement was obtained between the serum copper and serum ceruloplasmin estimations and between the quantitative and chromatographic estimations of amino-acid excretion. Some individuals were abnormal to one or other of the pairs of tests only. These results cast doubt on the hypothesis that the symptoms of Wilson's disease are secondary to a quantitative (or qualitative) abnormality of ceruloplasmin. They also suggest that the mode of inheritance of the biochemical defects may be more complicated than that of a simple recessive mutant gene. Two of the relatives (one pregnant and one immediately post-partum) had a high serum copper level, as is expected in pregnancy, but normal serum ceruloplasmin. This suggests that the mechanism of control of the serum ceruloplasmin concentration may, normally, depend on the serum copper concentration.

Journal Article↗

PubMedDate not supplied

Genetic and nutritional variations in antigen handling and disease.

Low function (deficiency), within the 'normal range', of each of five immunity functions is associated with immunopathological disease, and/or defective antigen handling. These are probably genetically determined, either polygenic or single gene, but environmental factors such as diet influence them greatly, and the vulnerability may be especially great in the newborn period. The relevant systems are those involved in the immune elimination of antigen (antibody and macrophages) and those possibly involved in the immune exclusion of antigen (IgA, the alternative pathway of complement, and cilial action). The gut has an especially complicated role in antigen-handling, and feeding influences its capacity to do so. Eczema was prevented by a regimen of neonatal antigen avoidance, which was largely breast-feeding, and it is likely that other immunopathological diseases result from antigen contact during periods of malnutrition. The mechanisms of such effects are likely to be complicated, but adjustment of the environment to suit the genetically vulnerable, particularly in the newborn period, can lead to the prevention of disease.

Adult↗