What is kcnj5

Dronedarone HCl. E dihydrochloride. GW X. Hydralazine HCl. ICA Linopirdine dihydrochloride. Mitiglinide Calcium. ML ML HCl. NS PNU hydrochloride. SKA Tertiapin LQ. Tetraethylammonium chloride. Tolbutamide Sodium. UCL UK hydrochloride. VU hydrochloride.

YS hydrochloride. KCNJ5 28 KCNJ5 Kcnj5 28 16 Kcnj5 Ir Irk2 GlyArg p. ThrAla p. GlyGlu p. Sterner, F. Beuschlein, M. Reincke, J. Barhanin, S. Bandulik, R. The mutated KCNJ5 exhibited a pharmacological profile that differed from the one of wild-type channels.

This might implicate diagnostic testing of APAs and could offer new therapeutic strategies. Aldosterone is a key regulator of salt metabolism and, thereby, influences arterial blood pressure.

Frequency and amplitude of these oscillations are modulated by regulators of aldosterone secretion, such as angiotensin II 6 , According to the current concept, activity of the mutated KCNJ5 leads to influx of cations and, thereby, to membrane depolarization. The altered pharmacology of mutant KCNJ5 has to be considered for the interpretation of experimental and clinical data and might be relevant for the development of new therapies for APAs. Mutant-expressing cells were always compared with wild-type KCNJ5 electroporated cells to exclude that the results are affected by electroporation-induced cellular alterations.

Electroporation was done according to the manufacturer using 1-pulse 40 milliseconds at V. The extracellular Ringer-type control solution contained: mM NaCl, 1.

NCI-HR cells grown on glass cover slips were loaded at room temperature for 45 minutes with 0. The extracellular Ringer-type solution contained: mM NaCl, 1. Mean fluorescence ratios of emission at — nm after excitation at and nm were calculated for single-transfected cells using Axiovision software Zeiss.

Transfected cells were not selected for the sodium measurement. Swelling and disruption of the cells was induced by incubation in MilliQ-water on ice for 1. Lysates were homogenated with needle and syringe 27 G and cleared from cellular debris by centrifugation 10 min, 16 g. The ion concentrations were normalized against protein concentrations measured by a standard Bradford assay Bio-Rad. Tissue sampling was approved by the local ethics committee of the University Clinic Munich and all patients provided written informed consent.

Relevant contamination with genomic DNA was excluded by negative control reactions without the reverse transcriptase enzyme. The specificity of PCR amplifications was verified by agarose electrophoresis and melting curve analysis. Primer sequences are listed in Supplemental Table 1. The following substances were used for the pharmacological characterization of KCNJ5: 5-N-ethyl-N-isopropyl-amiloride EIPA , flufenamic acid, lidocaine, tertiapin-Q trifluoroacetate salt, triamterene, amiloride hydrochloride hydrate, benzamil, phenamil, bupivacain, diltiazem, nifedipine, and verapamil hydrochloride all from Sigma-Aldrich ; cariporide Santa Cruz Biotechnology, Inc ; and 2-[2-[4- 4-Nitrobenzyloxy phenyl]ethyl]isothiourea KB-R mesylate Tocris Bioscience.

Stock solutions were prepared in dimethyl sulfoxide, except of tertiapin-Q, which was dissolved in deionized water. Paired or unpaired Student's t test was used as appropriate to calculate the level of significance. In cells transfected with wild-type KCNJ5, whole-cell currents at resting conditions were very small and not different from mock-transfected cells. NCKX6 showed the highest expression levels in adenomas and adjacent adrenal tissues, and it was the predominantly expressed isoform in NCI-HR cells.

Relative expression levels of each transcript compared with the expression in brain are shown in a color scale green color, minimum expression level; red, maximum expression level; yellow, median, color range is sorted by the rank of the log2 relative expression levels. This current was inhibited when the KCNJ5 blocker tertiapin-Q 25 , 26 was applied to the bath solution.

Number of papers are based on searches of PubMed click on topic title for arbitrary criteria used. Summary of gene and mutations by cancer type from ICGC. Disclaimer: This site is for educational purposes only; it can not be used in diagnosis or treatment. Cite this page: Cotterill SJ. Note: content of abstracts copyright of respective publishers - seek permission where appropriate.

Toggle navigation. The encoded protein is a subunit of the potassium channel which is homotetrameric. It is controlled by G-proteins and has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Naturally occurring mutations in this gene are associated with aldosterone-producing adenomas. Show 10 KCNJ5 is implicated in: - external side of plasma membrane - G-protein activated inward rectifier potassium channel activity - integral to membrane - inward rectifier potassium channel activity - plasma membrane - potassium ion transport - protein binding - synaptic transmission - T-tubule - voltage-gated potassium channel complex Data from Gene Ontology via CGAP [Hide].

Cancer Overview. Literature Analysis Mouse over the terms for more detail; many indicate links which you can click for dedicated pages about the topic. Specific Cancers 3. Useful Links. Eur J Endocrinol. Objective: The pathophysiology of aldosterone-producing adenomas APAs has been intensively investigated using genetic and epigenetic approaches.

Design: Tissues of APAs and other adrenocortical adenomas were obtained from patients who underwent adrenalectomy. Prediction of miRNA target genes was performed by bioinformatics analysis. Conclusions: Our study suggests the possible pathophysiological involvement of specific miRNAs in calcium signaling and aldosterone hypersecretion in APAs. Further studies, including in vitro analyses, are required to clarify these findings.

Related: MicroRNAs. They are very stable and abundant in eukaryotes. Rev Col Bras Cir. METHODS: we prospectively collected tissue specimens from the tumor area and from the proximal and distal resection margins of the stomachs of ten patients with gastric adenocarcinoma who underwent gastrectomy with D2 lymphadenectomy, and submitted these specimens to DNA extraction.

We used the p53 exon 5 gene as an internal control of the multiplex PCR reaction. Vitam Horm. Aldosterone-producing adenomas APA are more common than initially anticipated. Research during recent years has led to an increased knowledge of the background dysregulation of the increased aldosterone release, where mutation in the gene encoding the potassium channel GIRK4-KCNJ5-is the most common.

Moreover, the discovery of aldosterone-producing cell clusters in apparently normal adenomas has also led to increased understanding of the development of PA, and presumably also APA. A continuum ranging from low-renin hypertension to APA and overt PA is reasoned, and the secondary effects of aldosterone on especially the cardiovascular system have also become more evident. Diagnostics of PA and APA is important in order to reduce cardiovascular morbidity and mortality, but the diagnostic methods are somewhat unspecific and insensitive, indicating the need for novel methods.

Kamilaris CDC, Stratakis CA An update on adrenal endocrinology: significant discoveries in the last 10 years and where the field is heading in the next decade. Hormones Athens. The last 10 years have produced an amazing number of significant discoveries in the field of adrenal endocrinology. The development of the adrenal gland was linked to specific molecules.

Nat Rev Endocrinol. Epub Dec KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism.

Curr Opin Nephrol Hypertens. Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5. Epub Jan Primary aldosteronism and potassium channel mutations. Curr Opin Endocrinol Diabetes Obes. Mutations in KCNJ5 gene cause hyperaldosteronism.