Endocrine Abstracts

Adrenocorticotrophic hormone (ACTH), a 39 amino acid peptide is the principal regulator of adrenal steroidogenesis and is thus essential for life. ACTH mediates its effects through a cell surface G-protein coupled receptor which elevates the intracellular production of cAMP through adenylate cyclase. There have been significant difficulties in developing a suitable heterologous expression system to study the ACTH receptor (or melanocortin 2 receptor - MC2R), and we have postul...

The mechanisms which control the cell cycle and growth of adrenocortical cells remain largely uncharacterized. ACTH binds to its G protein-coupled receptor (GPCR), the melanocortin 2 receptor (MC2R) in the adrenal cortex and mediates the production of cAMP resulting in steroidogenesis. ACTH however also remains a candidate for the control of growth in the adrenal cortex. It is well known to have a growth promoting effect in vivo but has an opposing effect in some cell systems ...

Introduction: Silver–Russell Syndrome (SRS) is a heterogeneous condition characterised by low birth weight, postnatal growth failure and clinical features including relative macrocephaly, limb or facial asymmetry and a triangular facies with broad forehead, pointed chin and downturned mouth. SRS been linked to a number of genetic abnormalities including maternal uniparental disomy (UPD), of chromosome 7 and hypomethylation of the IGF2-H19 imprinted region on chromosome 11...

The evolution of aquatic vertebrates to dry land required adaptation of physiological systems concerned with water and mineral ion homeostasis. Two factors, calcitonin (CT) and parathyroid hormone (PTH), have ultimately become the principal hypo- and hyper-calcaemic factors respectively, in terrestrial vertebrates. Fish CT has been isolated and shown to be hypocalcaemic in mammals; its role in fish physiology is less well defined, although it may control calcium influx via the...

FGD is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex to stimulate glucocorticoid production. The disease is caused by mutations in ACTHR or MC2R in 25% of cases, termed FGD type 1, and has previously been linked to a locus on chromosome 8q12.2-21.2 in a single family with FGD type 2. We have recently described a novel gene (FGD2) that when defective is a second cause of FGD. Sequencing of this gene in 100 FGD2 patients ha...

Low birth weight infants have higher mortality rates and are at a greater risk of impaired immunity in later life than are their normal-birth-weight counterparts. The aim was to investigate the effect of maternal dietary fat supplementation during the first or second half of gestation on the plasma immunoglobulin A concentration in her offspring.Six pregnant sows were randomly allocated to receive 10% extra energy derived from dietary fat during either t...