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https://www.readbyqxmd.com/read/28104302/stat5-drives-abnormal-proliferation-in-autosomal-dominant-polycystic-kidney-disease
#1
Maria Fragiadaki, Morgane Lannoy, Madeleine Themanns, Barbara Maurer, Wouter N Leonhard, Dorien J M Peters, Richard Moriggl, Albert C M Ong
Autosomal dominant polycystic kidney disease (ADPKD) leads to renal failure. The hallmark of ADPKD is increased epithelial proliferation, which has been proposed to be due to atypical signaling including abnormal JAK-STAT activity. However, the relative contribution of JAK-STAT family members in promoting proliferation in ADPKD is unknown. Here, we present siRNA JAK-STAT-focused screens discovering a previously unknown proliferative role for multiple JAK-STAT components (including STAT1, STAT2, STAT4, STAT5a, and STAT5b)...
January 16, 2017: Kidney International
https://www.readbyqxmd.com/read/28078622/evidence-that-polycystins-are-involved-in-hydra-cnidocyte-discharge
#2
Susan McLaughlin
Like other cnidarians, the freshwater organism Hydra is characterized by the possession of cnidocytes (stinging cells). Most cnidocytes are located on hydra tentacles, where they are organized along with sensory cells and ganglion cells into battery complexes. The function of the battery complexes is to integrate multiple types of stimuli for the regulation of cnidocyte discharge. The molecular mechanisms controlling the discharge of cnidocytes are not yet fully understood, but it is known that discharge depends on extracellular Ca(2+) and that mechanically induced cnidocyte discharge can be enhanced by the presence of prey extracts and other chemicals...
March 2017: Invertebrate Neuroscience: IN
https://www.readbyqxmd.com/read/28077787/androgen-suppresses-protein-kinase-d1-expression-through-fibroblast-growth-factor-receptor-substrate-2-in-prostate-cancer-cells
#3
Liyong Zhang, Zhenlong Zhao, Shuping Xu, Manuj Tandon, Courtney R LaValle, Fan Deng, Q Jane Wang
In prostate cancer, androgen/androgen receptor (AR) and their downstream targets play key roles in all stages of disease progression. The protein kinase D (PKD) family, particularly PKD1, has been implicated in prostate cancer biology. Here, we examined the cross-regulation of PKD1 by androgen signaling in prostate cancer cells. Our data showed that the transcription of PKD1 was repressed by androgen in androgen-sensitive prostate cancer cells. Steroid depletion caused up regulation of PKD1 transcript and protein, an effect that was reversed by the AR agonist R1881 in a time- and concentration-dependent manner, thus identifying PKD1 as a novel androgen-repressed gene...
January 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28077374/parallel-microarray-profiling-identifies-erbb4-as-a-determinant-of-cyst-growth-in-adpkd-and-a-prognostic-biomarker-for-disease-progression
#4
Andrew J Streets, Tajdida A Magayr, Linghong Huang, Laura Vergoz, Sandro Rossetti, Roslyn J Simms, Peter C Harris, Dorien J M Peters, Albert Cm Ong
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the fourth most common cause of end-stage renal disease. The disease course can be highly variable and treatment options are limited. To identify new therapeutic targets and prognostic biomarkers of disease, we conducted parallel discovery microarray profiling in normal and diseased human PKD1 cystic kidney cells. A total of 1515 genes and 5 miRNA were differentially expressed by more than two-fold in PKD1 cells. Functional enrichment analysis identified 30 dysregulated signalling pathways including the epidermal growth factor (EGF) receptor pathway...
January 11, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28056869/protein-kinase-c-inhibitor-g%C3%A3-6976-but-not-g%C3%A3-6983-induces-the-reversion-of-e-to-n-cadherin-switch-and-metastatic-phenotype-in-melanoma-identification-of-the-role-of-protein-kinase-d1
#5
Messaouda Merzoug-Larabi, Caroline Spasojevic, Marianne Eymard, Caroline Hugonin, Christian Auclair, Manale Karam
BACKGROUND: Melanoma is a highly metastatic type of cancer that is resistant to all standard anticancer therapies and thus has a poor prognosis. Therefore, metastatic melanoma represents a significant clinical problem and requires novel and effective targeted therapies. The protein kinase C (PKC) family comprises multiple isoforms of serine/threonine kinases that possess distinct roles in cancer development and progression. In this study, we determined whether inhibition of PKC could revert a major process required for melanoma progression and metastasis; i...
January 5, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28054945/somatic-genetic-variation-in-solid-pseudopapillary-tumor-of-the-pancreas-by-whole-exome-sequencing
#6
Meng Guo, Guopei Luo, Kaizhou Jin, Jiang Long, He Cheng, Yu Lu, Zhengshi Wang, Chao Yang, Jin Xu, Quanxing Ni, Xianjun Yu, Chen Liu
Solid pseudopapillary tumor of the pancreas (SPT) is a rare pancreatic disease with a unique clinical manifestation. Although CTNNB1 gene mutations had been universally reported, genetic variation profiles of SPT are largely unidentified. We conducted whole exome sequencing in nine SPT patients to probe the SPT-specific insertions and deletions (indels) and single nucleotide polymorphisms (SNPs). In total, 54 SNPs and 41 indels of prominent variations were demonstrated through parallel exome sequencing. We detected that CTNNB1 mutations presented throughout all patients studied (100%), and a higher count of SNPs was particularly detected in patients with older age, larger tumor, and metastatic disease...
January 3, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28007903/autophagy-activators-suppress-cystogenesis-in-an-autosomal-dominant-polycystic-kidney-disease-model
#7
Ping Zhu, Cynthia J Sieben, Xiaolei Xu, Peter C Harris, Xueying Lin
Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in either PKD1 or PKD2 It is one of the most common heritable human diseases with eventual development of renal failure; however, effective treatment is lacking. While inhibition of mechanistic target of rapamycin (mTOR) effectively slows cyst expansions in animal models, results from clinical studies are controversial, prompting further mechanistic studies of mTOR-based therapy. Here, we aim to establish autophagy, a downstream pathway of mTOR, as a new therapeutic target for PKD...
December 22, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27991905/structure-of-the-polycystic-kidney-disease-trp-channel-polycystin-2-pc2
#8
Mariana Grieben, Ashley C W Pike, Chitra A Shintre, Elisa Venturi, Sam El-Ajouz, Annamaria Tessitore, Leela Shrestha, Shubhashish Mukhopadhyay, Pravin Mahajan, Rod Chalk, Nicola A Burgess-Brown, Rebecca Sitsapesan, Juha T Huiskonen, Elisabeth P Carpenter
Mutations in either polycystin-1 (PC1 or PKD1) or polycystin-2 (PC2, PKD2 or TRPP1) cause autosomal-dominant polycystic kidney disease (ADPKD) through unknown mechanisms. Here we present the structure of human PC2 in a closed conformation, solved by electron cryomicroscopy at 4.2-Å resolution. The structure reveals a novel polycystin-specific 'tetragonal opening for polycystins' (TOP) domain tightly bound to the top of a classic transient receptor potential (TRP) channel structure. The TOP domain is formed from two extensions to the voltage-sensor-like domain (VSLD); it covers the channel's endoplasmic reticulum lumen or extracellular surface and encloses an upper vestibule, above the pore filter, without blocking the ion-conduction pathway...
December 19, 2016: Nature Structural & Molecular Biology
https://www.readbyqxmd.com/read/27984604/-identification-of-a-novel-splicing-mutation-of-pkd1-gene-in-a-pedigree-affected-with-autosomal-dominant-polycystic-kidney-disease
#9
Peiwen Xu, Yang Zou, Jie Li, Sexin Huang, Ming Gao, Ranran Kang, Yuan Gao
OBJECTIVE: To identify potential mutations of PKD1 gene in a family affected with autosomal dominant polycystic kidney disease (ADPKD). METHODS: The coding regions of the PKD1 gene were subjected to PCR and Sanger sequencing. Reverse transcription-PCR (RT-PCR) was used to determine the relative mRNA expression in the patient. RESULTS: A splicing site mutation, c.8791+1_8791+5delGTGCG (IVS23+1_+5delGTGCG), was detected in the PKD1 gene in all 5 patients from the pedigree but not in 6 phenotypically normal relatives and 40 healthy controls...
December 10, 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27934598/human-embryonic-stem-cells-derived-from-abnormal-blastocyst-donated-by-polycystic-kidney-syndrome-patient
#10
Qi Ouyang, Xiaoying Zhou, Jing Chen, Juan Du, Guangxiu Lu, Ge Lin, Yi Sun
Human embryonic stem cell (hESC) line chHES-468 was derived from abnormal blastocyst donated by polycystic kidney syndrome (PKD) patient after preimplantation genetic diagnosis (PGD) treatment. DNA sequencing analysis confirmed that chHES-468 cell line carried a heterozygous mutation, c.10526_10527delAG, of PKD1. Characteristic tests proved that the chHES-468 cell line presented typical markers of pluripotency and had the capability to form the three germ layers both in vitro and in vivo.
November 5, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27921040/new-insights-into-the-molecular-mechanisms-targeting-tubular-channels-transporters-in-pkd-development
#11
REVIEW
Ming Wu, Shengqiang Yu
BACKGROUND: Autosomal dominant polycystic kidney disease (PKD) or autosomal recessive PKD is caused by a mutation in the PKD1, PKD2 or PKHD1 gene, which encodes polycystin-1, polycystin-2 or fibrocystin, respectively. Embryonic and postnatal mutation studies show that transport or channel function is dysregulated before the initiation of cystogenesis, suggesting that the abnormality of transport or channel function plays a critical role in the pathology of PKD. SUMMARY: Polycystin-2 by itself is a calcium-permeable cation channel, and its channel function can be regulated by polycystin-1 or fibrocystin...
October 2016: Kidney Diseases
https://www.readbyqxmd.com/read/27921039/clinical-manifestation-and-management-of-adpkd-in-western-countries
#12
REVIEW
Claudia Sommerer, Martin Zeier
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease in Western countries. The prevalence is between 2.4/10,000 and 3.9/10,000. ADPKD represents a systemic disease resulting in deterioration in renal function. Until now, mutations in two genes (PKD1 and PKD2) have been identified. Recently, the European Medicines Agency (EMA) approved the use of the vasopressin V2 receptor antagonist tolvaptan to slow the progression of cyst development and renal insufficiency connected with ADPKD in adult patients with chronic kidney disease stages 1-3 at initiation of treatment with evidence of rapidly progressing disease...
October 2016: Kidney Diseases
https://www.readbyqxmd.com/read/27921038/the-clinical-manifestation-and-management-of-autosomal-dominant-polycystic-kidney-disease-in-china
#13
REVIEW
Cheng Xue, Chen-Chen Zhou, Ming Wu, Chang-Lin Mei
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic hereditary kidney disease characterized by progressive enlargement of renal cysts. The incidence is 1-2‰ worldwide. Mutations in two genes (PKD1 and PKD2) cause ADPKD. Currently, there is no pharmaceutical treatment available for ADPKD patients in China. Summary: This review focused on advances in clinical manifestation, gene diagnosis, risk factors, and management of ADPKD in China. There is an age-dependent increase in total kidney volume (TKV) and decrease in renal function in Chinese ADPKD patients...
October 2016: Kidney Diseases
https://www.readbyqxmd.com/read/27909759/continuous-hydrostatic-pressure-induces-differentiation-phenomena-in-chondrocytes-mediated-by-changes-in-polycystins-sox9-and-runx2
#14
Konstantinos Karamesinis, Anastasia Spyropoulou, Georgia Dalagiorgou, Maria A Katsianou, Marjan Nokhbehsaim, Svenja Memmert, James Deschner, Heleni Vastardis, Christina Piperi
PURPOSE: The present study aimed to investigate the long-term effects of hydrostatic pressure on chondrocyte differentiation, as indicated by protein levels of transcription factors SOX9 and RUNX2, on transcriptional activity of SOX9, as determined by pSOX9 levels, and on the expression of polycystin-encoding genes Pkd1 and Pkd2. MATERIALS AND METHODS: ATDC5 cells were cultured in insulin-supplemented differentiation medium (ITS) and/or exposed to 14.7 kPa of hydrostatic pressure for 12, 24, 48, and 96 h...
January 2017: Journal of Orofacial Orthopedics, Fortschritte der Kieferorthopädie
https://www.readbyqxmd.com/read/27858251/methodological-issues-in-clinical-trials-of-polycystic-kidney-disease-a-focused-review
#15
REVIEW
Ioan-Andrei Iliuta, Abhijat Kitchlu, York Pei
The field of therapeutics in autosomal dominant polycystic kidney disease (ADPKD) has seen a significant expansion recently, as major clinical trials have provided promising evidence in favor of new disease-modifying drugs. Though these trials are encouraging, limitations are noticeable in the form of methodological issues that restrict the interpretation of results. In this review, we discuss the methodological pitfalls of high-profile clinical interventional trials for ADPKD which have been published since 2009...
November 17, 2016: Journal of Nephrology
https://www.readbyqxmd.com/read/27843768/functional-alterations-due-to-amino-acid-changes-and-evolutionary-comparative-analysis-of-arpkd-and-adpkd-genes
#16
Burhan M Edrees, Mohammad Athar, Zainularifeen Abduljaleel, Faisal A Al-Allaf, Mohiuddin M Taher, Wajahatullah Khan, Abdellatif Bouazzaoui, Naffaa Al-Harbi, Ramzia Safar, Howaida Al-Edressi, Khawala Alansary, Abulkareem Anazi, Naji Altayeb, Muawia A Ahmed
A targeted customized sequencing of genes implicated in autosomal recessive polycystic kidney disease (ARPKD) phenotype was performed to identify candidate variants using the Ion torrent PGM next-generation sequencing. The results identified four potential pathogenic variants in PKHD1 gene [c.4870C > T, p.(Arg1624Trp), c.5725C > T, p.(Arg1909Trp), c.1736C > T, p.(Thr579Met) and c.10628T > G, p.(Leu3543Trp)] among 12 out of 18 samples. However, one variant c.4870C > T, p.(Arg1624Trp) was common among eight patients...
December 2016: Genomics Data
https://www.readbyqxmd.com/read/27835667/technical-evaluation-identification-of-pathogenic-mutations-in-pkd1-and-pkd2-in-patients-with-autosomal-dominant-polycystic-kidney-disease-by-next-generation-sequencing-and-use-of-a-comprehensive-new-classification-system
#17
Moritoshi Kinoshita, Eiji Higashihara, Haruna Kawano, Ryo Higashiyama, Daisuke Koga, Takafumi Fukui, Nobuhisa Gondo, Takehiko Oka, Kozo Kawahara, Krisztina Rigo, Tim Hague, Kiyonori Katsuragi, Kimiyoshi Sudo, Masahiko Takeshi, Shigeo Horie, Kikuo Nutahara
Genetic testing of PKD1 and PKD2 is expected to play an increasingly important role in determining allelic influences in autosomal dominant polycystic kidney disease (ADPKD) in the near future. However, to date, genetic testing is not commonly employed because it is expensive, complicated because of genetic heterogeneity, and does not easily identify pathogenic variants. In this study, we developed a genetic testing system based on next-generation sequencing (NGS), long-range polymerase chain reaction, and a new software package...
2016: PloS One
https://www.readbyqxmd.com/read/27796018/-adpkd-predictors-of-renal-disease-progression
#18
Francesco Scolari, Nadia Dallera, Arianna Saletti, Vincenzo Terlizzi, Claudia Izzi
Factors predicting rapid progression of kidney disease in ADPKD can be divided into genetic (non-modifiable) and clinical (modifiable) risk factors. Patients harbouring PKD1 mutations, in particular if truncating, have a more severe form of ADPKD. Clinical risk factors include decrease in glomerular filtration rate and renal blood flow at a young age; high total kidney volume; hypertension and urological complications <35 years; albuminuria/proteinuria. The renal disease is also more severe in males and in subjects with family history of ESRD <55 years...
September 2016: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/27793600/is-it-time-to-fold-the-cysts-away
#19
Matteus Krappitz, Anna-Rachel Gallagher, Sorin Fedeles
Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in PKD1 and PKD2, encoding polycystin-1 and polycystin-2, respectively. Optimizing the folding environment for polycystin-1 missense mutations may have a critical effect on the progression of ADPKD in animal models and could potentially lead to tangible therapeutic options for subgroups of ADPKD patients.
December 2016: Trends in Molecular Medicine
https://www.readbyqxmd.com/read/27782177/system-analysis-of-gene-mutations-and-clinical-phenotype-in-chinese-patients-with-autosomal-dominant-polycystic-kidney-disease
#20
Meiling Jin, Yuansheng Xie, Zhiqiang Chen, Yujie Liao, Zuoxiang Li, Panpan Hu, Yan Qi, Zhiwei Yin, Qinggang Li, Ping Fu, Xiangmei Chen
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder mainly caused by mutation in PKD1/PKD2. However, ethnic differences in mutations, the association between mutation genotype/clinical phenotype, and the clinical applicable value of mutation detection are poorly understood. We made systematically analysis of Chinese ADPKD patients based on a next-generation sequencing platform. Among 148 ADPKD patients enrolled, 108 mutations were detected in 127 patients (85.8%)...
October 26, 2016: Scientific Reports
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