Searchable abstracts of presentations at key conferences in endocrinology

ea0035s8.1 | Membrane lipid composition and receptor function. Signalling and trafficking | ECE2014

Membrane lipid composition and receptor function

Balla Tamas

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...

ea0049ep804 | Nuclear receptors and Signal transduction | ECE2017

Functional characterization of inherited S127F substitution in V2 vasopressin receptor revealed a loss-of-function mutation leading to nephrogenic diabetes insipidus

Erdelyi Laszlo , Balla Andras , Hunyady Laszlo

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...

ea0029p1162 | Nuclear receptors and Signal transduction | ICEECE2012

Characterisation of the N321K mutation in the type-2 vasopressin receptor causing nephrogenic diabetes insipidus

Erdelyi L. , Balla A. , Toth M. , Hunyady L.

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...

ea0081p525 | Adrenal and Cardiovascular Endocrinology | ECE2022

Characterization of angiotensin II-induced dual-specificity MAPK phosphatase gene expression changes in vascular smooth muscle cells

Gem Janka , Kovacs Kinga , Balla Andras , Hunyady Laszlo

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...

ea0090p570 | Adrenal and Cardiovascular Endocrinology | ECE2023

An Unexpected Enzyme in Vascular Smooth Muscle Cells: Angiotensin II Upregulates Cholesterol-25-Hydroxylase Gene Expression

Bernadett Kovacs Kinga , Borbala Gem Janka , Balla Andras , Hunyady Laszlo

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 ...

ea0056gp143 | Neuroendocrinology | ECE2018

Characterization and functional rescue of a nephrogenic diabetes insipidus causing S127F substitution in V2 vasopressin receptor

Erdelyi Laszlo , Szalai Laura , Sziraki Andras , Balla Andras , Hunyady Laszlo

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...

ea0063p1014 | Interdisciplinary Endocrinology 2 | ECE2019

Characterization of type 1 angiotensin II receptor activation induced gene expression changes in rat vascular smooth muscle cells

Szalai Laura , Porkolab Edit , Szakadati Gyongyi , Gem Janka , Kovacs Kinga , Balla Andras , Hunyady Laszlo

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...

ea0049gp37 | Bone & Calcium Homeostasis 1 | ECE2017

Effects of BCR-ABL targeted tyrosine kinase inhibitors on the whole transcriptome pattern of cultured murine osteoblasts

Balla Bernadett , Kirschner Gyongyi , Horvath Peter , Lakatos Gergely , Kosa Janos , Lakatos Peter

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...

ea0037ep855 | Thyroid cancer | ECE2015

Vitamin-D neutralising CYP24A1 gene expression in thyroid fine-needle aspiration biopsy samples

Balla Bernadett , Horvath Peter , Tobias Balint , Gyori Gabriella , Jaray Balazs , Kosa Janos , Lakatos Peter

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...

ea0032p1098 | Thyroid cancer | ECE2013

Examination of CYP24A1 and ‘three-genes' (SFN, MRC2, HMGA2) expressions in different pathological subgroups of human papillary thyroid cancer

Balla Bernadett , Kosa Janos , Tobias Balint , Takacs Istvan , Nagy Zsolt , Horvath Peter , Horanyi Janos , Szekely Eszter , Jaray Balazs , Lakatos Peter

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)....