A major question in human genetics concerns the relationship between the extra chromosome material in the Down syndrome (DS) and its effects. It is suggested here that a generalized disruption of evolved genetic balance in cells of affected individuals leads to decreased developmental and physiological buffering against genetic and environmental forces. Examples of consequences in DS of this model of disruption of homeostasis are presented: i) increased variance for metric traits, ii) amplified instability of developmental pathways, iii) reduced precision of physiological homeostatic controls, and iv) generalized increased morbidity. Evolution has selected for interacting systems. When this evolved balance is disrupted, as in autosomal aneuploidy, the organism is generally disrupted. The model emphasizes the role of environment in producing much of the DS phenotype. Traits less buffered than others in the general population are the ones most disturbed in DS and account for much of the DS phenotype.
The incorporation of radioactively labeled leucine into TCA-precipitable proteins by submandibular gland tissue slices from control, alloxan diabetic, and insulin supplemented diabetic rats was measured in vitro. Incorporation decreased in alloxan diabetes and could be restored to control levels within three hours after insulin administration. The effects of alloxan diabetes and insulin on 3H-leucine incorporation paralleled their effects on a secretory enzyme, peroxidase. Insulin in vitro stimulated the incorporation of 3H-leucine within 15 minutes of addition to the incubation medium. Further, the response to insulin was found to be dose-related. The conclusion drawn from these results is that insulin has a rapid, direct effect on the rate of protein synthesis in the rat submandibular gland.
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