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https://www.readbyqxmd.com/read/29767557/polycystin-1-dysfunction-impairs-electrolyte-and-water-handling-in-a-renal-pre-cystic-mouse-model-for-adpkd
#1
Eric H J Verschuren, Sami G Mohammed, Wouter N Leonhard, Caro Overmars-Bos, Kimberly A M Veraar, Joost G J Hoenderop, René J M Bindels, Dorien J M Peters, Francisco J Arjona
The PKD1 gene encodes polycystin-1 (PC1), a mechanosensor triggering intracellular responses upon urinary flow sensing in kidney tubular cells. Mutations in PKD1 lead to autosomal dominant polycystic kidney disease (ADPKD). The involvement of PC1 in renal electrolyte handling remains unknown since renal electrolyte physiology in ADPKD patients has only been characterized in cystic ADPKD. We thus studied the renal electrolyte handling in inducible kidney-specific Pkd1 knockout (iKsp-Pkd1-/-) mice manifesting a pre-cystic phenotype...
May 16, 2018: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/29706351/monoallelic-mutations-to-dnajb11-cause-atypical-autosomal-dominant-polycystic-kidney-disease
#2
Emilie Cornec-Le Gall, Rory J Olson, Whitney Besse, Christina M Heyer, Vladimir G Gainullin, Jessica M Smith, Marie-Pierre Audrézet, Katharina Hopp, Binu Porath, Beili Shi, Saurabh Baheti, Sarah R Senum, Jennifer Arroyo, Charles D Madsen, Claude Férec, Dominique Joly, François Jouret, Oussamah Fikri-Benbrahim, Christophe Charasse, Jean-Marie Coulibaly, Alan S Yu, Korosh Khalili, York Pei, Stefan Somlo, Yannick Le Meur, Vicente E Torres, Peter C Harris
Autosomal-dominant polycystic kidney disease (ADPKD) is characterized by the progressive development of kidney cysts, often resulting in end-stage renal disease (ESRD). This disorder is genetically heterogeneous with ∼7% of families genetically unresolved. We performed whole-exome sequencing (WES) in two multiplex ADPKD-like pedigrees, and we analyzed a further 591 genetically unresolved, phenotypically similar families by targeted next-generation sequencing of 65 candidate genes. WES identified a DNAJB11 missense variant (p...
May 3, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29703844/a-genome-wide-association-study-of-diabetic-kidney-disease-in-subjects-with-type-2-diabetes
#3
Natalie R van Zuydam, Emma Ahlqvist, Niina Sandholm, Harshal Deshmukh, N William Rayner, Moustafa Abdalla, Claes Ladenvall, Daniel Ziemek, Eric Fauman, Neil R Robertson, Paul M McKeigue, Erkka Valo, Carol Forsblom, Valma Harjutsalo, Annalisa Perna, Erica Rurali, M Loredana Marcovecchio, Robert P Igo, Rany M Salem, Norberto Perico, Maria Lajer, Annemari Käräjämäki, Minako Imamura, Michiaki Kubo, Atsushi Takahashi, Xueling Sim, Jianjun Liu, Rob M van Dam, Guozhi Jiang, Claudia H T Tam, Andrea O Y Luk, Heung Man Lee, Cadmon K P Lim, Cheuk Chun Szeto, Wing Yee So, Juliana C N Chan, Su Fen Ang, Rajkumar Dorajoo, Ling Wang, Tan Si Hua Clara, Amy-Jayne McKnight, Seamus Duffy, Marcus G Pezzolesi, Genie Consortium, Michel Marre, Beata Gyorgy, Samy Hadjadj, Linda T Hiraki, Tarunveer S Ahluwalia, Peter Almgren, Christina-Alexandra Schulz, Marju Orho-Melander, Allan Linneberg, Cramer Christensen, Daniel R Witte, Niels Grarup, Ivan Brandslund, Olle Melander, Andrew D Paterson, David Tregouet, Alexander P Maxwell, Su Chi Lim, Ronald C W Ma, E Shyong Tai, Shiro Maeda, Valeriya Lyssenko, Tiinamaija Tuomi, Andrzej S Krolewski, Stephen S Rich, Joel N Hirschhorn, Jose C Florez, David Dunger, Oluf Pedersen, Torben Hansen, Peter Rossing, Giuseppe Remuzzi, Mary Julia Brosnan, Colin N A Palmer, Per-Henrik Groop, Helen M Colhoun, Leif C Groop, Mark I McCarthy
Identification of sequence variants robustly associated with predisposition to diabetic kidney disease (DKD) has the potential to provide insights into the pathophysiological mechanisms responsible. We conducted a genome-wide association study (GWAS) of DKD in type 2 diabetes (T2D) using eight complementary dichotomous and quantitative DKD phenotypes: the principal dichotomous analysis involved 5,717 T2D subjects, 3,345 with DKD. Promising association signals were evaluated in up to 26,827 subjects with T2D (12,710 with DKD)...
April 27, 2018: Diabetes
https://www.readbyqxmd.com/read/29595914/uromodulin-deficiency-alters-tubular-injury-and-interstitial-inflammation-but-not-fibrosis-in-experimental-obstructive-nephropathy
#4
Olena Maydan, Paul G McDade, Yan Liu, Xue-Ru Wu, Douglas G Matsell, Allison A Eddy
Human GWAS and Mendelian genetic studies have linked polymorphic variants and mutations in the human uromodulin gene (UMOD) with chronic kidney disease. The primary function of this kidney-specific and secreted protein remains elusive. This study investigated whether UMOD deficiency modified responses to unilateral ureteral obstruction (UUO)-induced kidney injury. Kidneys harvested from groups of wild-type (UMOD+/+) and knockout (UMOD-/-) male mice (n = 7-10 each) were studied on days 7, 14, and 21. Compared to sham kidneys, UMOD protein levels increased 9-13x after UUO and were associated with increased urinary UMOD levels...
March 2018: Physiological Reports
https://www.readbyqxmd.com/read/29578190/uromodulin-rs4293393-t-c-variation-is-associated-with-kidney-disease-in-patients-with-type-2-diabetes
#5
Vinod Kumar, Ashok Kumar Yadav, Vivek Kumar, Anil Bhansali, Vivekanand Jha
Background & objectives: Uromodulin, a UMOD gene encoded glycoprotein is synthesized exclusively in renal tubular cells and released into urine. Mutations lead to uromodulin misfolding and retention in the kidney, where it might stimulate cells of immune system to cause inflammation and progression of kidney disease. Genome-wide association studies (GWAS) have identified UMOD locus to be associated with hypertension and diabetic nephropathy (DN). In this study, we investigated the association between rs4293393 variation in UMOD gene and susceptibility to kidney disease in individuals with type 2 diabetes mellitus (T2DM)...
November 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/29569962/a-novel-uromodulin-mutation-in-autosomal-dominant-tubulointerstitial-kidney-disease-a-pedigree-based-study-and-literature-review
#6
Ziqiang Lin, Juan Yang, Hong Liu, Dan Cai, Zhenmei An, Yerong Yu, Tao Chen
Autosomal dominant tubulointerstitial kidney disease caused by mutations in uromodulin gene (ADTKD-UMOD) is a spectrum of hereditary renal disorders, characterized by early-onset hyperuricemia, gout and progressive nephropathy. This study presented a novel UMOD mutation in an ADTKD pedigree and reviewed studies in Chinese population. The index patient is a 16-year-old girl with hypertension, hyperuricemia and normal serum creatinine level. Four affected and six unaffected members were available for genetic screen...
November 2018: Renal Failure
https://www.readbyqxmd.com/read/29513881/identification-of-a-novel-umod-mutation-c-163g-a-in-a-brazilian-family-with-autosomal-dominant-tubulointerstitial-kidney-disease
#7
L B Lopes, C C Abreu, C F Souza, L E R Guimaraes, A A Silva, F Aguiar-Alves, K O Kidd, S Kmoch, A J Bleyer, J R Almeida
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by autosomal dominant inheritance, progressive chronic kidney disease, and a bland urinary sediment. ADTKD is most commonly caused by mutations in the UMOD gene encoding uromodulin (ADTKD-UMOD). We herein report the first confirmed case of a multi-generational Brazilian family with ADTKD-UMOD, caused by a novel heterozygous mutation (c.163G>A, GGC→AGC, p.Gly55Ser) in the UMOD gene. Of 41 family members, 22 underwent genetic analysis, with 11 individuals found to have this mutation...
March 1, 2018: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/29513073/modulation-of-tubular-solute-reuptake-in-umod-knockout-mice
#8
David J Friedman, Seth L Alper
No abstract text is available yet for this article.
March 7, 2018: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/29511113/blood-her2-and-uromodulin-as-causal-mediators-of-ckd
#9
Jennifer Sjaarda, Hertzel C Gerstein, Salim Yusuf, Darin Treleaven, Michael Walsh, Johannes F E Mann, Sibylle Hess, Guillaume Paré
Many biomarkers have been epidemiologically linked with CKD; however, the possibility that such associations are due to reverse causation or confounding limits the utility of these biomarkers. To overcome this limitation, we used a Mendelian randomization (MR) approach to identify causal mediators of CKD. We performed MR by first identifying genetic determinants of 227 serum protein biomarkers assayed in 4147 participants of the Outcome Reduction with Initial Glargine Intervention (ORIGIN) trial who had early or prediabetes, and assessing the effects of these biomarkers on CKD in the CKD genetics consortium ( n =117,165; 12,385 cases) using the inverse-variance weighted (fixed-effects) method...
April 2018: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29424336/a-novel-umod-gene-mutation-associated-with-chronic-kidney-failure-at-a-young-age
#10
Nicolina Stefania Carucci, Gianluca Caridi, Francesca Lugani, Claudia Barone, Giovanni Conti
Autosomal dominant tubulointerstitial kidney disease (ADTKD) belongs to a group of renal hereditary disorders linked by common findings of tubulointerstitial disease and dominant inheritance. The renal clinical phenotype is characterized by chronic kidney disease, hyperuricemia, gout, and, inconstantly, renal cysts. Uromodulin (UMOD) gene mutations are related to the clinical phenotype of ADTKD-UMOD. We describe here a novel heterozygous mutation of UMOD (c.249C>G; p.Cys83Trp) in an affected 9-year-old boy with progressive renal impairment and hyperuricemia...
February 9, 2018: Clinical Nephrology
https://www.readbyqxmd.com/read/29361765/tamm-horsfall-protein-is-a-potent-immunomodulatory-molecule-and-a-disease-biomarker-in-the-urinary-system
#11
REVIEW
Tsai-Hung Wu, Ko-Jen Li, Chia-Li Yu, Chang-Youh Tsai
Tamm-Horsfall protein (THP), or uromodulin (UMOD), is an 80-90-kDa phosphatidylinositol-anchored glycoprotein produced exclusively by the renal tubular cells in the thick ascending limb of the loop of Henle. Physiologically, THP is implicated in renal countercurrent gradient formation, sodium homeostasis, blood pressure regulation, and a defense molecule against infections in the urinary system. Investigations have also revealed that THP is an effective binding ligand for serum albumin, immunoglobulin G light chains, complement components C1 and C1q, interleukin (IL)-1β, IL-6, IL-8, tumor necrosis factor (TNF)-α, and interferon-γ through its carbohydrate side chains for maintaining circulatory and renal immune homeostasis...
January 22, 2018: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29212948/elevated-urinary-creld2-is-associated-with-endoplasmic-reticulum-stress-mediated-kidney-disease
#12
Yeawon Kim, Sun-Ji Park, Scott R Manson, Carlos Af Molina, Kendrah Kidd, Heather Thiessen-Philbrook, Rebecca J Perry, Helen Liapis, Stanislav Kmoch, Chirag R Parikh, Anthony J Bleyer, Ying Maggie Chen
ER stress has emerged as a signaling platform underlying the pathogenesis of various kidney diseases. Thus, there is an urgent need to develop ER stress biomarkers in the incipient stages of ER stress-mediated kidney disease, when a kidney biopsy is not yet clinically indicated, for early therapeutic intervention. Cysteine-rich with EGF-like domains 2 (CRELD2) is a newly identified protein that is induced and secreted under ER stress. For the first time to our knowledge, we demonstrate that CRELD2 can serve as a sensitive urinary biomarker for detecting ER stress in podocytes or renal tubular cells in murine models of podocyte ER stress-induced nephrotic syndrome and tunicamycin- or ischemia-reperfusion-induced acute kidney injury (AKI), respectively...
December 7, 2017: JCI Insight
https://www.readbyqxmd.com/read/29180396/the-umod-locus-insights-into-the-pathogenesis-and-prognosis-of-kidney-disease
#13
Olivier Devuyst, Cristian Pattaro
The identification of genetic factors associated with kidney disease has the potential to provide critical insights into disease mechanisms. Genome-wide association studies have uncovered genomic regions associated with renal function metrics and risk of CKD. UMOD is among the most outstanding loci associated with CKD in the general population, because it has a large effect on eGFR and CKD risk that is consistent across different ethnic groups. The relevance of UMOD for CKD is clear, because the encoded protein, uromodulin (Tamm-Horsfall protein), is exclusively produced by the kidney tubule and has specific biochemical properties that mediate important functions in the kidney and urine...
March 2018: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29066732/associations-between-genetic-risk-variants-for-kidney-diseases-and-kidney-disease-etiology
#14
Sebastian Wunnenburger, Ulla T Schultheiss, Gerd Walz, Birgit Hausknecht, Arif B Ekici, Florian Kronenberg, Kai-Uwe Eckardt, Anna Köttgen, Matthias Wuttke
Chronic kidney disease (CKD) is a global health problem with a genetic component. Genome-wide association studies have identified variants associated with specific CKD etiologies, but their genetic overlap has not been well studied. This study examined SNP associations across different CKD etiologies and CKD stages using data from 5,034 CKD patients of the German Chronic Kidney Disease study. In addition to confirming known associations, a systemic lupus erythematosus-associated risk variant at TNXB was also associated with CKD attributed to type 1 diabetes (p = 2...
October 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29052568/genetic-testing-of-the-mucin-1-gene-variable-number-tandem-repeat-single-cytosine-insertion-mutation-in-a-chinese-family-with-medullary-cystic-kidney-disease
#15
Nuo Si, Ke Zheng, Jie Ma, Xiao-Lu Meng, Xue-Mei Li, Xue Zhang
BACKGROUND: Medullary cystic kidney disease (MCKD) is clinically indistinguishable from several other autosomal-dominant renal diseases; thus, molecular genetic testing is needed to establish a definitive diagnosis. A specific type of single cytosine insertion in the variable number tandem repeat (VNTR) of the mucin 1 (MUC1) gene is the only known cause of MCKD1; however, genetic analysis of this mutation is difficult and not yet offered routinely. To identify the causative mutation/s and establish a definitive diagnosis in a Chinese family with chronic kidney disease, clinical assessments and genetic analysis were performed, including using a modified genotyping method to identify the MUC1- VNTR single cytosine insertion...
October 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28992252/uromodulin-slpa-binding-dictates-lactobacillus-acidophilus-uptake-by-intestinal-epithelial-m-cells
#16
Sae Yanagihara, Takashi Kanaya, Shinji Fukuda, Gaku Nakato, Misaho Hanazato, Xue-Ru Wu, Naoyuki Yamamoto, Hiroshi Ohno
Bacterial access to the gut immune system is a crucial process to promote host immune responses. The probiotic L-92 strain of Lactobacillus acidophilus exerts anti-allergic immunomodulatory effects upon oral administration in mice. Here we show that M cells are responsible for L-92 internalization for evoking L-92-mediated immune responses. L-92 specifically bound to uromodulin, a glycosylphosphatidylinositol-anchored protein expressed exclusively on M cells among intestinal epithelial cells. Internalization of L-92 into M cells was significantly reduced in uromodulin-deficient (Umod-/-) mice compared to Umod+/+ mice...
July 22, 2017: International Immunology
https://www.readbyqxmd.com/read/28990932/uromodulin-p-cys147trp-mutation-drives-kidney-disease-by-activating-er-stress-and-apoptosis
#17
Bryce G Johnson, Lan T Dang, Graham Marsh, Allie M Roach, Zebulon G Levine, Anthony Monti, Deepak Reyon, Lionel Feigenbaum, Jeremy S Duffield
Uromodulin-associated kidney disease (UAKD) is caused by mutations in the uromodulin (UMOD) gene that result in a misfolded form of UMOD protein, which is normally secreted by nephrons. In UAKD patients, mutant UMOD is poorly secreted and accumulates in the ER of distal kidney epithelium, but its role in disease progression is largely unknown. Here, we modeled UMOD accumulation in mice by expressing the murine equivalent of the human UMOD p.Cys148Trp point mutation (UmodC147W/+ mice). Like affected humans, these UmodC147W/+ mice developed spontaneous and progressive kidney disease with organ failure over 24 weeks...
November 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28954491/analysis-of-the-association-between-rs12917707-and-rs11864909-single-nucleotide-polymorphisms-in-the-region-of-the-uromoduline-gene-and-chronic-kidney-disease-a-family-based-study
#18
Joanna Żywiec, Katarzyna Kiliś-Pstrusińska, Maciej Tomaszewski, Władysław Grzeszczak
Chronic kidney disease (CKD) is an important challange for healthcare systems wordwide because of its high prevalence and serious late complications. The results of recent studies suggest an association between CKD development and genetic variation within the uromodulin gene (UMOD). The aim of this study was to investigate associations between two common single nucleotide polymorphisms - rs12917707 and rs11864909, located in the region of UMOD and chronic renal disease. The study group consisted of 109 patients with chronic kidney disease, caused by chronic renal glomerulonephritis or chronic tubulointerstitial nephritis, and 109 pairs of their biological parents...
September 21, 2017: Annals of Agricultural and Environmental Medicine: AAEM
https://www.readbyqxmd.com/read/28894234/elevated-umod-methylation-level-in-peripheral-blood-is-associated-with-gout-risk
#19
Yong Yang, Xiaoying Chen, Haochang Hu, Yuting Jiang, Hang Yu, Jie Dai, Yiyi Mao, Shiwei Duan
Uromodulin (UMOD) encodes an uromodulin glycoprotein, and its mutation results in uromodulin glycoprotein dysfunction and the occurrence of gout. The aim of our study was to assess whether UMOD methylation could predict the risk of gout. A total of 89 sporadic gout cases and 103 age and gender-matched healthy controls were recruited in this study. UMOD methylation level was determined by quantitative methylation-specific PCR (qMSP) in peripheral blood, and the percentage of methylated reference (PMR) was described to represent the methylation level...
September 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28858977/the-value-of-uromodulin-as-a-new-serum-marker-to-predict-decline-in-renal-function
#20
Andreas Leiherer, Axel Muendlein, Christoph H Saely, Eva M Brandtner, Kathrin Geiger, Peter Fraunberger, Heinz Drexel
BACKGROUND: Uromodulin is the most abundant protein in urine. Low uromodulin has been found associated with diabetes as well as with chronic kidney disease (CKD). Whether it also predicts a future decline in kidney function is not known. METHODS: We evaluated the association between serum uromodulin and kidney function in 529 patients and performed a genome-wide association study. Clinical parameters including renal function were determined at baseline and reassessed at a 4-year follow-up visit...
January 2018: Journal of Hypertension
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