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Jialin Meng, Yuchen Xu, Ao Li, Song Fan, Xufeng Shen, Dongyue Ma, Li Zhang, Zongyao Hao, Xiansheng Zhang, Chaozhao Liang
BACKGROUND The aim of this study was to describe the clinical characteristics of Chinese ADPKD inpatients and to identify the factors associated with disease severity. MATERIAL AND METHODS We included 167 hospitalized patients (inpatients) with ADPKD in this study. Multiple regression analyses were conducted to determine factors correlated with estimated glomerular filtration rate (eGFR). Patients were stratified into subgroups according to the presence of symptoms, in which clinical parameters were analyzed and compared...
September 16, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Rafael Gil de Rubio, Richard F Ransom, Sundeep Malik, David I Yule, Arun Anantharam, Alan V Smrcka
Phospholipase C (PLC) enzymes hydrolyze the plasma membrane (PM) lipid phosphatidylinositol 4,5-bisphosphate (PI4,5P2 ) to generate the second messengers inositol trisphosphate (IP3 ) and diacylglycerol (DAG) in response to receptor activation in almost all mammalian cells. We previously found that stimulation of G protein-coupled receptors (GPCRs) in cardiac cells leads to the PLC-dependent hydrolysis of phosphatidylinositol 4-phosphate (PI4P) at the Golgi, a process required for the activation of nuclear protein kinase D (PKD) during cardiac hypertrophy...
September 11, 2018: Science Signaling
Soo Yeon Kim, Jin Sook Lee, Woo Joong Kim, Hyuna Kim, Sun Ah Choi, Byung Chan Lim, Ki Joong Kim, Jong Hee Chae
BACKGROUND AND PURPOSE: Paroxysmal dyskinesia is a genetically and clinically heterogeneous movement disorder. Recent studies have shown that it exhibits both phenotype and genotype overlap with other paroxysmal disorders as well as clinical heterogeneity. We investigated the clinical and genetic characteristics of paroxysmal dyskinesia in children. METHODS: Fifty-five patients (16 from 14 families and 39 sporadic cases) were enrolled. We classified them into three phenotypes: paroxysmal kinesigenic dyskinesia (PKD), paroxysmal nonkinesigenic dyskinesia (PNKD), and paroxysmal exercise-induced dyskinesia (PED)...
July 12, 2018: Journal of Clinical Neurology
Sonali de Chickera, Ayub Akbari, Adeera Levin, Mila Tang, Pierre Brown, Ognjenka Djurdev, Mohan Biyani, Edward G Clark, Manish M Sood
Background: Polycystic kidney disease (PKD) leads to progressive chronic kidney disease (CKD) with a subsequent risk of adverse events such as cardiac disease, infections, end-stage kidney disease (ESKD), and mortality. Objectives: To determine the risks of CKD-related adverse outcomes in patients with PKD compared with patients without PKD. Setting: Canadian study of prediction of death, dialysis and interim cardiovascular events (CanPREDDICT) was a prospective pan-Canadian cohort study from 2008-2013 involving 28 facilities with adjudicated outcomes...
2018: Canadian Journal of Kidney Health and Disease
Matthew B Lanktree, Ioan-Andrei Iliuta, Amirreza Haghighi, Xuewen Song, York Pei
Autosomal dominant polycystic kidney disease (ADPKD) is caused primarily by mutations of two genes, PKD1 and PKD2. In the presence of a positive family history of ADPKD, genetic testing is currently seldom indicated as the diagnosis is mostly based on imaging studies using well-established criteria. Moreover, PKD1 mutation screening is technically challenging due to its large size, complexity (i.e. presence of six pseudogenes with high levels of DNA sequence similarity) and extensive allelic heterogeneity. Despite these limitations, recent studies have delineated a strong genotype-phenotype correlation in ADPKD and begun to unravel the role of genetics underlying cases with atypical phenotypes...
August 27, 2018: Nephrology, Dialysis, Transplantation
Beverley J Davis, Christopher R Chapple, Donna J Sellers, Alisdair L Naylor, David Sillar, Alistair Campbell, Russ Chess-Williams
α1 -adrenoceptor antagonists can impact upon sexual function and have potential in the treatment of erectile dysfunction. Human erectile tissue contains predominantly α1A -adrenoceptors, and here we examined whether contractions of this tissue are mediated by the functional phenotype, the α1L -adrenoceptor. Functional experiments using subtype selective agonists and antagonists, along with radioligand ([3 H]tamsulosin) binding assays, were used to determine the α1 -adrenoceptor population. A61603, a α1A -adrenoceptor agonist, was a full agonist with a potency 21-fold greater than that of noradrenaline...
August 9, 2018: Journal of Pharmacological Sciences
Danique R M Vlaskamp, Petra M C Callenbach, Patrick Rump, Lucia A A Giannini, Eva H Brilstra, Trijnie Dijkhuizen, Yvonne J Vos, Anne-Marie F van der Kevie-Kersemaekers, Jeroen Knijnenburg, Nicole de Leeuw, Rick van Minkelen, Claudia A L Ruivenkamp, Alexander P A Stegmann, Oebele F Brouwer, Conny M A van Ravenswaaij-Arts
We studied the presence of benign infantile epilepsy (BIE), paroxysmal kinesigenic dyskinesia (PKD), and PKD with infantile convulsions (PKD/IC) in patients with a 16p11.2 deletion including PRRT2 or with a PRRT2 loss-of-function sequence variant. Index patients were recruited from seven Dutch university hospitals. The presence of BIE, PKD and PKD/IC was retrospectively evaluated using questionnaires and medical records. We included 33 patients with a 16p11.2 deletion: three (9%) had BIE, none had PKD or PKD/IC...
August 17, 2018: European Journal of Medical Genetics
Valeria Padovano, Christine Podrini, Alessandra Boletta, Michael J Caplan
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common, potentially lethal, monogenic diseases and is caused predominantly by mutations in polycystic kidney disease 1 (PKD1) and PKD2, which encode polycystin 1 (PC1) and PC2, respectively. Over the decades-long course of the disease, patients develop large fluid-filled renal cysts that impair kidney function, leading to end-stage renal disease in ~50% of patients. Despite the identification of numerous dysregulated pathways in ADPKD, the molecular mechanisms underlying the renal dysfunction from mutations in PKD genes and the physiological functions of the polycystin proteins are still unclear...
August 17, 2018: Nature Reviews. Nephrology
Giulia Giordano
This paper considers two models of ceramide-transfer protein (CERT)-mediated ceramide transfer at the trans -Golgi network proposed in the literature, short distance shuttle and neck swinging , and seeks structural (parameter-free) features of the two models, which rely exclusively on the peculiar interaction network and not on specific parameter values. In particular, it is shown that both models can be seen as flow-inducing systems, where the flows between pairs of species are tuned by the concentrations of other species, and suitable external inputs can structurally regulate ceramide transfer...
June 2018: Royal Society Open Science
Callie Plafkin, Tripti Singh, Brad C Astor, Sandesh Parajuli, Gauri Bhutani, Nasia Safdar, Sarah E Panzer
BACKGROUND: Polyomavirus-associated nephropathy is associated with high risk of kidney allograft loss. Whether the cause of native end-stage renal disease influences the risk of BK infection is unclear. METHODS: A retrospective, single-center study of 2741 adult kidney transplant recipients between 1994 and 2014 was performed. Recipients had end-stage renal disease due to polycystic kidney disease (PKD, n = 549), diabetes mellitus (DM, n = 947), hypertension (HTN, n = 442), or glomerulonephritis (GN, n = 803)...
August 13, 2018: Transplant Infectious Disease: An Official Journal of the Transplantation Society
Asako Goto, Mark Charman, Neale D Ridgway
Protein kinase D (PKD) controls secretion from the trans-Golgi network (TGN) by phosphorylating phosphatidylinositol 4-kinase IIIβ and proteins that bind and/or transfer phosphatidylinositol 4-phosphate (PtdIns-4P), such as oxysterol-binding protein (OSBP) and ceramide transfer protein. Here, we investigated the consequences of PKD phosphorylation of OSBP at endoplasmic reticulum (ER)-Golgi membrane contact sites (MCS). Results with OSBP phospho-mutants revealed that PKD phosphorylation did not affect sterol and PtdIns-4P binding, activation of sphingomyelin (SM) synthesis at Golgi-ER MCS or other OSBP phospho-sites...
August 12, 2018: Traffic
Eiji Higashihara, Kouji Yamamoto, Shinya Kaname, Takatsugu Okegawa, Mitsuhiro Tanbo, Tsuyoshi Yamaguchi, Kaori Shigemori, Isao Miyazaki, Kenichi Yokoyama, Kikuo Nutahara
BACKGROUND: The Mayo Clinic Image Classification (MIC) was proposed as a renal prognosis prediction model for autosomal dominant polycystic kidney disease (ADPKD). MIC is based on the assumption of exponential constant increase in height-adjusted total kidney volume (HtTKV). HtTKV growth rate is calculated by one-time measurement of HtTKV and age. We named it as an age-adjusted HtTKV growth rate (AHTKV-α). AHTKV-α was compared with HtTKV slope measured by at least two HtTKV values. METHODS: Comparison of repeatability between AHTKV-α and HtTKV slope, correlation of subgroups divided according to baseline AHTKV-α and HtTKV slope with disease manifestations, estimated glomerular filtration rate (eGFR) slope, and renal survival were analyzed in 296 patients with ADPKD...
July 26, 2018: Clinical and Experimental Nephrology
Qiang Su, Feizhuo Hu, Xiaofei Ge, Jianlin Lei, Shengqiang Yu, Tingliang Wang, Qiang Zhou, Changlin Mei, Yigong Shi
Mutations in two genes, PKD1 and PKD2 , account for most cases of autosomal dominant polycystic kidney disease, one of the most common monogenetic disorders. Here we report the 3.6-angstrom cryo-electron microscopy structure of truncated human PKD1-PKD2 complex assembled in a 1:3 ratio. PKD1 contains a voltage-gated ion channel (VGIC) fold that interacts with PKD2 to form the domain-swapped, yet noncanonical, transient receptor potential (TRP) channel architecture. The S6 helix in PKD1 is broken in the middle, with the extracellular half, S6a, resembling pore helix 1 in a typical TRP channel...
September 7, 2018: Science
Parinaz Tavasolian, Masoud Rajabioun, Hamideh Salari Sedigh, Mohammad Azizzadeh
Ultrasonography is an accurate and accessible method for detecting polycystic kidney disease (PKD), an inherited autosomal dominant disease, and other urinary tract diseases. The present work is a preliminary study of PKD and urinary tract abnormalities using ultrasonography in Persian and other long hair cats in Iran. This study was conducted on 83 cats including 68 Persian cats and 15 Persian related cats from December 2013 to March 2015. The age of cats ranged 3 to 72 months. Cats were classified as PKD-positive when at least one renal cyst was observed...
2018: Veterinary Research Forum
Valentina Benedetti, Valerio Brizi, Patrizia Guida, Susanna Tomasoni, Osele Ciampi, Elena Angeli, Ugo Valbusa, Ariela Benigni, Giuseppe Remuzzi, Christodoulos Xinaris
The lack of engineering systems able to faithfully reproduce complex kidney structures in vitro has made it difficult to efficiently model kidney diseases and development. Using polydimethylsiloxane (PDMS) scaffolds and a kidney-derived cell line we developed a system to rapidly engineer custom-made 3D tubules with typical renal epithelial properties. This system was successfully employed to engineer patient-specific tubules, to model polycystic kidney disease (PKD) and test drug efficacy, and to identify a potential new pharmacological treatment...
July 2018: EBioMedicine
Hyunsuk Kim, Yeonsil Yu, Kwang Eon Shim, Jin Eop Kim, Junga Koh, Jong-Woo Yoon, Curie Ahn, Yun Kyu Oh
A 47-year-old female previously diagnosed with ADPKD visited the hospital due to sudden pain in her upper abdomen and back. Esophagogastroduodenoscopy, contrast-enhanced abdominal computed tomography (CT), and CT angiography identified an esophageal artery pseudoaneurysm and hematoma in the esophagus. Urgent angiography and embolization were performed. After the procedure, CT angiography and positron emission tomography were performed due to differences in blood pressure between the arms. The patient was also found to have Takayasu arteritis and subsequently received outpatient follow-up care...
June 2018: Electrolyte & Blood Pressure: E & BP
Antje Jensch, Yannick Frey, Katharina Bitschar, Patrick Weber, Simone Schmid, Angelika Hausser, Monilola A Olayioye, Nicole E Radde
Many newly synthesized cellular proteins pass through the Golgi complex from where secretory transport carriers sort them to the plasma membrane and the extracellular environment. The formation of these secretory carriers at the trans-Golgi network is promoted by the Protein Kinase D (PKD) family of serine-threonine kinases. Here, using mathematical modeling and experimental validation of the PKD activation and substrate phosphorylation kinetics, we reveal that the expression level of the PKD substrate Deleted in Liver Cancer 1 (DLC1), a Rho GTPase activating protein that is inhibited by PKD-mediated phosphorylation, determines PKD activity at the Golgi membranes...
July 25, 2018: Journal of Biological Chemistry
Yang Yang, Meihan Chen, Jie Zhou, Jiayi Lv, Shuwei Song, LiLi Fu, Jiejian Chen, Ming Yang, Changlin Mei
BACKGROUND: Autosomal-dominant polycystic kidney disease (ADPKD) is the leading inherited renal disease worldwide. The proproliferative function of macrophages is associated with late-stage cyst enlargement in mice with PKD; however, the way in which macrophages act on cyst-lining epithelial cells (CLECs) has not been well elucidated. METHODS: We generated a rapid-onset PKD mouse model by inactivating Pkd1 on postnatal day 10 (P10) and compared cell proliferation and differential gene expression in kidney tissues of the PKD mice and wild-type (WT) littermates...
September 2018: Journal of the American Society of Nephrology: JASN
Sultan Aydin Köker, Yeşim Oymak, Paola Bianchi, Salih Gözmen, Tuba H Karapinar, Elisa Fermo, Raziye C Vergin
Pyruvate kinase deficiency (PKD) is the most common glycolytic defect leading to hemolytic anemia. PKD is caused by the mutations in the PKLR gene; however, the detection of a decreased PK activity should be first measured for rapid diagnosis. We report here the case of a 1-year-old girl with mild hemolysis and PKD. At the time of the study, the patient showed a hemoglobin level of 9.5 g/dL, mean corpuscular volume of 93 fL, reticulocyte of 6.7%, and lactate dehydrogenase of 218 IU/L. Peripheral blood smear showed polychromasia, anisocytosis, tear drop cells, fragmented eyrtrocytes, and target cells...
July 19, 2018: Journal of Pediatric Hematology/oncology
Stephan A Eisler, Filipa Curado, Gisela Link, Sarah Schulz, Melanie Noack, Maren Steinke, Monilola A Olayioye, Angelika Hausser
Protein kinase D (PKD) is a family of serine/threonine kinases that is required for the structural integrity and function of the Golgi complex. Despite its importance in the regulation of Golgi function, the molecular mechanisms regulating PKD activity are still incompletely understood. Using the genetically encoded PKD activity reporter G-PKDrep we now uncover a Rho signaling network comprising GEF-H1, the RhoGAP DLC3, and the Rho effector PLCε that regulate the activation of PKD at trans-Golgi membranes...
July 20, 2018: ELife
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