IA-2 and IA-2β are transmembrane proteins of dense-core vesicles (DCV). The deletion of these proteins results in a reduction in the number of DCV and the secretion of hormones and neurotransmitters. As a result, this leads to a variety of pathophysiologic changes. The purpose of this review is to describe these changes, which are characterized by glucose intolerance, female infertility, behavior and learning abnormalities and alterations in the diurnal circadian rhythms of blood pressure, heart rate, spontaneous physical activity and body temperature. These findings show that the deletion of IA-2 and IA-2β results in multiple pathophysiologic changes and represents a unique in vivo model for studying the effect of hormone and neurotransmitter reduction on known and still unrecognized targets.
Keywords: Autoantigen; Behavior and learning; Circadian rhythm; Dense-core vesicles (DCV); Female infertility; Glucose intolerance; Type 1 diabetes (T1D).