Identification of Three Novel Frameshift Mutations in the PKD1 Gene in Iranian Families with Autosomal Dominant Polycystic Kidney Disease Using Efficient Targeted Next-Generation Sequencing

Conclusion: This study demonstrates the effectiveness of NGS in significantly reducing the cost and time for simultaneous sequence analysis of PKD1 and PKD2, simplifying the genetic diagnostics of ADPKD. Although a probable correlation between the mutation types and phenotypic outcome is possible, however for more extensive studies in future, the consideration of renal hypouricemia (RHUC) and PKD1 coexistence may be helpful. The novel frameshift mutations reported by this study are p. Q1997X, P. D73X and p. V336X.Kidney Blood Press Res 2018;43:471 –478
Source: Kidney and Blood Pressure Research - Category: Urology & Nephrology Source Type: research

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A new study demonstrates the long-term efficacy of the vasopressin-2 receptor antagonist tolvaptan in patients with autosomal dominant polycystic kidney disease (ADPKD).Reuters Health Information
Source: Medscape Medical News Headlines - Category: Consumer Health News Tags: Medscape Today News Source Type: news
Autosomal dominant polycystic kidney disease (ADPKD) is associated with progressive enlargement of cysts, leading to a decline in function and renal failure that cannot be prevented by current treatments. Mutations in pkd1 and pkd2, encoding the polycystin 1 and 2 proteins, induce growth-related pathways, including heat shock proteins, as occurs in some cancers, raising the prospect that pharmacological interventions that target these pathways might alleviate or prevent ADPKD. Here, we demonstrate a role for VX-809, a corrector of cystic fibrosis transmembrane conductance regulator (CFTR), conventionally used to manage cys...
Source: Journal of Biological Chemistry - Category: Chemistry Authors: Tags: Molecular Bases of Disease Source Type: research
CONCLUSIONS: Increased serum endothelin levels independently predict hypertension in ADPKD. Serum endothelin levels are also associated with both renal and overall survival in patients with ADPKD. PMID: 30022320 [PubMed - as supplied by publisher]
Source: Journal of Nephrology - Category: Urology & Nephrology Authors: Tags: J Nephrol Source Type: research
We report the near atomic resolution (3.3 Å) of the human polycystic kidney disease 2-like 1 (polycystin 2-l1) ion channel. Encoded by PKD2L1, polycystin 2-l1 is a calcium and monovalent cation-permeant ion channel in primary cilia and plasma membranes. The related primary cilium-specific polycystin-2 protein, encoded by PKD2, shares a hig h degree of sequence similarity, yet has distinct permeability characteristics. Here we show that these differences are reflected in the architecture of polycystin 2-l1.
Source: eLife - Category: Biomedical Science Tags: Structural Biology and Molecular Biophysics Source Type: research
Publication date: Available online 12 July 2018Source: American Journal of Kidney DiseasesAuthor(s): Chenchen Zhou, Changlin Mei, Cheng Xue
Source: American Journal of Kidney Diseases - Category: Urology & Nephrology Source Type: research
Publication date: June 2018Source: American Journal of Kidney Diseases, Volume 71, Issue 6Author(s): Nelly M. Cruz, Benjamin S. FreedmanCRISPR is a nuclease guidance system that enables rapid and efficient gene editing of specific DNA sequences within genomes. We review applications of CRISPR for the study and treatment of kidney disease. CRISPR enables functional experiments in cell lines and model organisms to validate candidate genes arising from genetic studies. CRISPR has furthermore been used to establish the first models of genetic disease in human kidney organoids derived from pluripotent stem cells. These gene-edi...
Source: American Journal of Kidney Diseases - Category: Urology & Nephrology Source Type: research
by Lucia Carolina Leal-Esteban, Benjamin Roth é, Simon Fortier, Manuela Isenschmid, Daniel B. Constam Altered glucose and lipid metabolism fuel cystic growth in polycystic kidneys, but the cause of these perturbations is unclear. Renal cysts also associate with mutations in Bicaudal C1 (Bicc1) or in its self-polymerizing sterile alpha motif (SAM). Here, we found that Bicc1 maintains normoglycemia and the expression of the gluconeogenic enzymes FBP1 and PEPCK in kidneys. A proteomic screen revealed that Bicc1 interacts with the C-Terminal to Lis-Homology domain (CTLH) complex. Since the orthologous Gid complex inS.c...
Source: PLoS Genetics - Category: Genetics & Stem Cells Authors: Source Type: research
ConclusionsThis preliminary study showed the proposed fully automated method for renal volume assessment is feasible, exhibiting how a correct use of biomedical image processing may allow polycystic kidney segmentation also in non–contrast-enhanced CT. Further investigation on a larger dataset is needed to confirm the robustness of the presented approach.
Source: Academic Radiology - Category: Radiology Source Type: research
Publication date: Available online 25 June 2018Source: European Journal of Obstetrics &Gynecology and Reproductive BiologyAuthor(s): Alberto López
Source: European Journal of Obstetrics and Gynecology and Reproductive Biology - Category: OBGYN Source Type: research
Publication date: April 2018Source: Archives of Cardiovascular Diseases Supplements, Volume 10, Issue 2Author(s): A. Moussaoui, C. Bouleti, M. Flamant, B. Escoubet, F. Arnoult, O. Milleron, E. Vidal-Petiot, M. Langeois, P. Ou, F. Vrtovsnik, G. JondeauAimsRecently, simple renal cysts have been linked to an increased risk of aortic aneurism. In autosomal dominant polycystic kidney disease (ADPKD), there is a higher prevalence of intracranial aneurisms but little evidence regarding aortic dilation. The aim of this study was to compare aortic root and ascending aorta diameters in ADPKD patients and matched controls.MethodsFrom...
Source: Archives of Cardiovascular Diseases Supplements - Category: Cardiology Source Type: research
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