They found that Apoe −/− and APOE4 mice, but not APOE2 or APOE3 mice, had severe BBB defects that were caused by defective regulation of the levels of cyclophilin A (CypA).
Based on our results, we propose that the key defect underlying the hyperphagic behavior in PWS is not defective regulation of energy homeostasis as had been proposed [19], [20], but rather defective control of meal termination.
The distinctive nature of the Hmx1 mutant phenotypes, resulting either from the loss of protein function or defective regulation, is underscored by comparison with the effects of other genes that regulate morphogenesis of the pinna.
It may be that SIRT6 affects transcription at many loci in a tissue-specific manner; the metabolic defect associated with the lack of SIRT6 could represent the net result of defective regulation of multiple genes.
However, both psychosocial and biochemical mechanisms seem to be important causes; the chief biochemical cause appears to be the defective regulation of the release of one or more naturally occurring neurotransmitters in the brain, particularly norepinephrine and serotonin.
Defective regulation of these channels is a prominent characteristic of cystic fibrosis.
Moreover, "gender bias," with a higher prevalence of MS in females could be attributed to defective regulation of X chromosome through epigenetic effects, or to the parent-of-origin effect, where descendants of diseased mothers have greater chance of developing MS than offspring of diseased fathers, caused probably by epigenetic mechanisms such as genome imprinting [13].
In terms of future implications, these studies highlight important facets to consider in diseases associated with abnormal levels of sCD25 as well as defective regulation by Treg.
Neonatal death is often caused by respiratory failure, including defective regulation of the contractions of respiratory muscles, such as the diaphragm and intercostal muscles.
A major contributing factor to hyperglycemia in type 2 diabetes is defective regulation of glucose production by the liver [6], [7].
