Endocrine Abstracts

Introduction: MicroRNAs are short, single-stranded, protein non-coding RNA molecules which can be secreted into the circulation by mammalian cells. Their altered expression pattern has been described in many different physiological and pathological conditions. In the extracellular compartments they are encapsulated within vesicles, associated to proteins or apoptotic bodies. Due to their stability they are suggested as promising circulating biomarkers. Regarding pituitary aden...

Background: Peripheral clocks are set by different nervous, hormonal and metabolic stimuli and regulate the circadian expression of several genes. It has been demonstrated that circadian oscillation of gene expression can be detected in various cell lines in vitro.Aim: To explore whether a peripheral clock could be induced in human adrenocortical cell line H295R and what are the effects of glucocorticoids on this clock system.<p class="abste...

Hereditary genetic variants are common among patients with endocrine tumours. Some specific clinical conditions are informative for certain monogenic syndromes (i.e., Carney complex, MEN1, MEN2, von Hippel Lindau syndrome) but manifestations characteristic for these syndromes occur more commonly as apparently sporadic. Other tumours, i.e., pheochromocytoma/paragangliomas (PPGL) are linked to multiple genes, hence a multigene approach in molecular genetic testing strategy is re...

Background: Although the role of hypermethylation of certain tumor suppressor genes are known in pituitary adenomas little information is available regarding whole methylation-demethylation status and especially regarding its correlation with clinical parameters. High-performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS) is an easy and accurate method to detect the level of methylcytosine (5 mC) and the demethylation intermedier hydroxymethylcytosine (5 hmC) ...

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...

Introduction: MicroRNAs (miRs) are 16–29 nucleotide long, non-coding RNA molecules that post-transcriptionally regulate gene expression via RNA interference. It has been shown that they participate in control of cell proliferation, cell differentiation, signal transduction, cell death and carcinogenesis.Aim: To examine the role of the miRs in sporadic pituitary tumourigenesis.Methods: Twenty-five sporadic pituitary adenoma spe...

Introduction: There are three principal high-throughput methods that have been widely used to determine whole genome miRNAs expression profiles: i) microarrays, ii) qPCR based arrays, and iii) next generation sequencing (NGS). Our aim was to compare the results obtained from these platforms in normal and adenomatous pituitary samples and to validate the results by an independent sample set using qPCR.Material and methods: Using four normal pituitary (NP)...

Introduction: Pheochromocytomas and paragangliomas (Pheo/PGL) are rare neuroendocrine tumours arising from the adrenal medulla or the symphathetic paraganglia, respectively. Germline mutations are present in ~40% of the patients. To date, at least 16 genes have been demonstrated to be involved in the genetic background of Pheo/PGL. Prioritization in order of genes tested can be applied, but if the probability of a disease-associated germline mutation exceeds 10% the testing of...

Introduction: Disrupted mitochondrial functions and genetic variations of mitochondrial DNA (mtDNA) have been observed in different tumors. Regarding pituitary adenomas mtDNA was evaluated only in oncocytic type using PCR based methods and it showed high prevalence of Complex I variants. Next generation sequencing (NGS) allows high throughput sequencing and it is useful for accurate identification of heteroplasmy of mitochondrial genome as well.Aim: We a...

Neonatal Cushing syndrome (CS) is a rather rare disease. The majority of these few cases are of ACTH dependent origin or caused by a unilateral adrenal tumour (carcinoma or adenoma), however ACTH independent bilateral hyperplasias stand for only a few percent of all cases. The management of neonatal CS depends on the underlying cause – if found in time - of the disease. In the past the survival rate of children with CS was low, new and renewed medical attempts have improv...