Endocrine Abstracts

Background: Abnormal microRNAs (miRNAs) expression profiles have been recently associated with sporadic pituitary adenomas, suggesting that miRNAs can contribute to tumor formation. miRNAs are small noncoding RNAs which inhibit post-transcriptional expression of target mRNAs by binding to complementary sequences usually located in the 3′ untranslated region (3′UTR). However, the substantial lack of knowledge about miRNAs’ targets hinder full understanding of t...

Background: Pituitary adenomas usually occur as sporadic tumours, but familial cases are increasingly identified. Patients of 15–40% with familial-isolated-pituitary-adenoma (FIPA) harbour germline mutations in the aryl-hydrocarbon receptor interacting gene (AIP). AIP is thought to act as a tumour suppressor gene, with loss of heterozygosity shown in pituitary tumour samples at the 11q13 locus, where AIP is located. Previously we have shown AIP has properties consistent w...

There are controversial data on the beneficial/detrimental effects on the cardiovascular as well as on the metabolic system by the sex hormone testosterone. Recent data support the hypothesis that low levels of androgens are associated with adverse cardiovascular risk factors including an atherogenic lipid profile, obesity, insulin resistance and hypertension. AMPK is a sensor of energy balance at both the cellular and whole-body level. Once activated by low energy status, it ...

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant negative disorder characterised by the occurrence of multiple adenomas including hyperplasia and/or neoplasm of the parathyroid glands, pancreatic islets and pituitary glands. Germline mutations in the menin gene predispose to the MEN1 syndrome; however, about 10–20% of patients with MEN1 do not have a detectable menin mutation. Recently, a mouse strain with a MEN1-like phenotype has been re...

AIP mutations predispose to familial isolated pituitary adenomas (FIPA) and 45 different AIP mutations have been described in the literature. Most of these mutations result in complete disruption of the C-terminal region of the AIP protein due to early stop codons. In this study we were particularly interested in the effect of AIP mutations in the promoter region (−270−−269CG & −220C) and 2 synonymous mutations (c.249G>T, p.G83= and c...