Polycystin-1 dysfunction impairs electrolyte and water handling in a renal pre-cystic mouse model for adpkd.

In conclusion, our data indicate that PC1 is involved in renal Mg2+, Ca2+ and water handling, and its dysfunction resulting in a systemic electrolyte imbalance characterized by low serum electrolyte concentrations. PMID: 29767557 [PubMed - as supplied by publisher]
Source: Am J Physiol Renal P... - Category: Urology & Nephrology Authors: Tags: Am J Physiol Renal Physiol Source Type: research

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Emerging evidence has demonstrated that epigenetic regulation plays a vital role in gene expression under normal and pathological conditions. Alterations in the expression and activation of histone methyltransferases (HMTs) have been reported in preclinical models of multiple kidney diseases, including acute kidney injury, chronic kidney disease, diabetic nephropathy, polycystic kidney disease, and renal cell carcinoma. Pharmacological inhibition of these enzymes has shown promise in preclinical models of those renal diseases. In this review, we summarize recent knowledge regarding expression and activation of various HMTs...
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
Contributors : Jin He ; Zhe ZhangSeries Type : Expression profiling by high throughput sequencingOrganism : Sus scrofaBased on the dosage effect hypothesis, renal cysts could arise in transgenic murine models overexpressing either PKD1 or PKD2, which are causal genes responsible for autosomal dominant polycystic kidney disease (ADPKD). To prove whether PKD genes overexpression is a universal mechanism driving cystogenesis or is merely restricted to rodents, other animal models are required. Previously, we failed to observe any renal cysts in a PKD2 overexpression transgenic pig model partially due to epigenetic silencing o...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Sus scrofa Source Type: research
AbstractA 14-year-old Japanese boy was diagnosed with immunoglobulin A nephropathy resulting in end-stage kidney disease (ESKD). He underwent ABO-compatible living kidney transplantation from his father at the age of 27. In the process of selecting a donor before the transplantation, it turned out that his mother had polycystic kidneys and that her family had a history of hypertension and cerebrovascular diseases. The patient himself also had bilateral multiple kidney cysts, with a normal-sized kidney, confusing us to make the diagnosis of acquired cystic kidney disease (ACKD) or ADPKD difficult at that point. Seventeen ye...
Source: CEN Case Reports - Category: Urology & Nephrology Source Type: research
CONCLUSIONS: Tolvaptan have a beneficial effect on ADPKD, but associated with an increase of adverse events on high dose when comparing with the placebo. Further RCTs studies on tolvaptan may be required to support this conclusion. PMID: 31793415 [PubMed - as supplied by publisher]
Source: Combinatorial Chemistry and High Throughput Screening - Category: Chemistry Authors: Tags: Comb Chem High Throughput Screen Source Type: research
CONCLUSIONS: The point prevalence of definite and likely ADPKD observed in this study is higher than those reported in the literature, but lower than genetic prevalence based on estimates of disease expectancy or on analysis of large population-sequencing databases. PMID: 31791998 [PubMed - as supplied by publisher]
Source: Clinical Journal of the American Society of Nephrology : CJASN - Category: Urology & Nephrology Authors: Tags: Clin J Am Soc Nephrol Source Type: research
Contributors : Aniruddha Chatterjee ; Sarah Bowden ; Micheal Eccles ; Michael Bates ; Euan Rodger ; Cherie StaynerSeries Type : Methylation profiling by high throughput sequencingOrganism : Homo sapiensLimited data exists on alterations in DNA methylation that are associated with Autosomal Dominant Polycystic Kidney Disease (ADPKD). Given there are similarities between cystic kidney disease and neoplasia, and that DNA methylation inhibitors are FDA-approved for the treatment of myelodysplastic syndrome, we performed genome-scale methylation analysis of cortical kidney tissue from four ADPKD patients and nonADPKD cortical k...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Methylation profiling by high throughput sequencing Homo sapiens Source Type: research
Publication date: Available online 29 November 2019Source: Stem Cell ResearchAuthor(s): Piera Trionfini, Osele Ciampi, Elena Romano, Ariela Benigni, Susanna TomasoniAbstractAutosomal dominant polycystic kidney disease (ADPKD) is the most prevalent inherited renal disease, characterized by multiple cysts that can lead to kidney failure resulting in end-stage renal disease. ADPKD is mainly caused by mutations in either the PKD1 and PKD2 genes, encoding for polycystin-1 and polycystin-2, respectively. In order to clarify the disease mechanisms, here we describe the generation of two isogenic induced pluripotent stem cell (iPS...
Source: Stem Cell Research - Category: Stem Cells Source Type: research
Purpose of review Nuclear factor erythroid 2-related factor 2 (Nrf2) is a transcription factor which regulates a wider range of downstream pathways than previously thought. This review focuses on the novel findings about the internal regulatory mechanisms of Nrf2, the expanding understanding of its role in maintaining cellular homeostasis and the attempts to broaden the clinical application of its activators. Recent findings Nrf2 is in charge of the maintenance of cellular homeostasis under stress and there exist the internal regulatory mechanisms for Nrf2 which have recently been elucidated. New downstream pathways o...
Source: Current Opinion in Nephrology and Hypertension - Category: Urology & Nephrology Tags: HORMONES, AUTACOIDS, NEUROTRANSMITTERS AND GROWTH FACTORS: Edited by Mark Cooper and Merlin Thomas Source Type: research
Medical staff at the Sir Ganga Ram Hospital in New Delhi, India, removed the giant kidney from a man who was preparing to have a transplant. He has a condition called polycystic kidney disease.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
AbstractAutosomal dominant polycystic kidney disease (ADPKD) is the most common genetic renal disease, caused in the majority of the cases by a mutation in either thePKD1 or thePKD2 gene. ADPKD is characterised by a progressive increase in the number and size of cysts, together with fibrosis and distortion of the renal architecture, over the years. This is accompanied by alterations in a complex network of signalling pathways. However, the underlying molecular mechanisms are not well characterised. Previously, we defined the PKD Signature, a set of genes typically dysregulated in PKD across different disease models from a ...
Source: Journal of Molecular Medicine - Category: Molecular Biology Source Type: research
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