Endocrine Abstracts

Information transfer through cellular membranes relies upon recognition of the physical and chemical information surrounding the cell by specific proteins, called receptors located in the plasma membrane (PM). These receptors are coupled to various signal relaying systems in the inter leaflet of the PM to initiate the cascade of cellular events that is characteristic of the cell and the receptor. Several receptor types alter the activity of enzymes that liberate signalling mol...

The V2 vasopressin receptor (V2-R) mediates the effect of vasopressin on the water reabsorption in the kidney and several mutations in the V2-R have been identified causing nephrogenic diabetes insipidus (NDI). In this study, we investigated a previously not characterized mutation of the. We obtained genomic DNA of a young male patient with NDI, the AVPR2 gene was amplified with PCR and a missense mutation (S127F) was identified. We monitored the cellular localization of the S...

Background: Loss of function mutations of the type-2 vasopressin receptor (V2R) in kidney lead to nephrogenic diabetes insipidus (NDI). The function of mutant receptors can be rescued using ligands resulting sufficient amount of plasma membrane localized V2Rs in a conformation which are able to generate cAMP signal. We examined a previously described, not characterized mutation. In order to determine personalized therapy for the individual the properties of the mutant receptor...

Angiotensin II (AngII) is an octapeptide hormone, which participates in physiological and pathological mechanisms. AngII exerts a number of biological effects through the type 1 angiotensin II receptor (AT1R). One of the main targets of AngII are vascular smooth muscle and its stimulation activates numerous signaling pathways that cause contraction and could also result in gene expression changes in vascular smooth muscle cells (VSMCs). Next-generation sequencing (NGS) experim...

Angiotensin II (AngII) is a vasoactive peptide hormone and the effector of the renin-angiotensin-aldosterone system. It exerts its main physiological effects through type 1 angiotensin II receptor (AT1R), but it can also contribute to the development of cardiovascular diseases. Likewise, oxysterols such as 25-hydroxycholesterol (25-HC), the product of cholesterol-25-hydroxylase (CH25H), can have harmful effects on the vasculature since they affect vascular smooth muscle cells ...

The concentrating function of the kidney is important to maintain the water homeostasis of the body. It is regulated by the arginine-vasopressin system through the type 2 vasopressin receptor (V2R). Loss-of-function mutations of V2R in kidney can lead to nephrogenic diabetes insipidus (NDI) which results several symptoms such as polyuria, polydipsia, and hyposthenuria. In this study, we functionally characterized and investigated the potential rescue of a missense mutation (S1...

Angiotensin II (AngII) mainly acts through type 1 angiotensin II receptor (AT1R) to promote a broad variety of biological effects. The vascular smooth muscle cells are one of the main target of AngII and its stimulation activates numerous signaling pathways which could result in gene expression changes in these cells. We carried out Affymetrix GeneChip experiments to analyze the effects of AngII stimulation on gene expression. More than 200 genes were upregulated in response t...

Breakpoint cluster region abelson fusion oncoprotein (BCR-ABL) targeted tyrosine kinase inhibitors (TKIs) are widely used in long-term medications of hematological malignancies. Numerous clinical observations confirmed that these drugs significantly modify the physiology of bone tissue as a side effect. Currently, there are numerous contradictory results regarding the complex effects of TKIs on bone metabolism, as well as there is no clear evidence to explain them, either in t...

Objectives: We previously published the result of CYP24A1 gene expression in one hundred, solely papillary thyroid carcinoma (PTC) compared to its own tumour free control from the same patient. We report an increase in CYP24A1 gene transcription in more than half of analysed PTCs. Elevated CYP24A1 protein expression was also observed in the cancerous tissue section compared to peritumoural normal thyroid tissue. In the present study we aimed to examine CYP24A1 gene transcripti...

Background: The ’three-genes’ (SFN, MRC2, HMGA2) might have direct role in various cancer progression and malignant thyroid conditions. We previously reported an increased expression of 1,25-D3 neutralizing enzyme, (24-hydroxylase – CYP24A1) as a possible novel marker gene in thyroid carcinoma. In this study, we examined the transcription activity of CYP24A1 and ‘three-genes’ in four functional subgroups of papillary thyroid tumor (PTC)....