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https://www.readbyqxmd.com/read/29181760/atp7b-mutation-detection-and-pathogenicity-analysis-one-atypical-case-of-wilson-s-disease-with-adrenocortical-insufficiency
#1
Min Liu, Meifang Jin, Xuqin Chen, Bo Wan, Yue Guo, Mao Sheng, Linqi Chen, Lei Zhao, Danping Huang, Yan Li
Wilson's disease (WD) is an autosomal recessive disorder caused by defective function of the copper-transporting ATP7B protein. Symptoms are typically related to the brain and liver, while endocrinologic abnormalities are rare. Here, we reported a 12-year-old female patient that was initially presented with unusual skin darkening and low serum level of adrenocorticotropic hormone and diagnosed as having adrenocortical insufficiency. We further screened the mutation in ATP7B by direct DNA sequencing and found compound heterozygous mutations: a known pathogenic mutation in exon8:c...
November 28, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/29147139/insights-into-the-management-of-wilson-s-disease
#2
REVIEW
Mohmadshakil Kathawala, Gideon M Hirschfield
Wilson's disease is a rare, inherited autosomal recessive disease of copper metabolism, in which the causative gene, ATP7B, results in absent or reduced function of the ATP7B transporter important for biliary excretion of copper and incorporation of copper into caeruloplasmin. Affected patients accumulate excessive copper within the liver, brain and other tissues. A disease mainly of children, adolescents and young adults; clinical features vary from the asymptomatic state to chronic liver disease, acute liver failure, and neuropsychiatric manifestations...
November 2017: Therapeutic Advances in Gastroenterology
https://www.readbyqxmd.com/read/29139524/computational-modelling-of-the-redistribution-of-copper-isotopes-by-proteins-in-the-liver
#3
Alexander Tennant, Arvi Rauk, Michael E Wieser
Changes in the stable isotope composition of copper in blood serum as a result of biological processes in the liver were quantified as coupled equilibrium fractionation processes. The model used calculated reduced partition function ratios corresponding to interactions involving individual proteins using Density Functional Theory. This quantified the effect that each process had on the redistribution of copper isotopes in the liver. It was not possible to calculate the reduced partition function of CTR1 as a high resolution crystal structure of its copper binding domains are unavailable at the time of writing, and an optimization process was used to estimate the reduced partition function of CTR1 and constrain the possible isotopic fractionation associated with interactions involving CTR1 independent of direct DFT calculations and assumptions of its structure...
November 15, 2017: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/29063292/the-six-metal-binding-domains-in-human-copper-transporter-atp7b-molecular-biophysics-and-disease-causing-mutations
#4
REVIEW
Candan Ariöz, Yaozong Li, Pernilla Wittung-Stafshede
Wilson Disease (WD) is a hereditary genetic disorder, which coincides with a dysfunctional copper (Cu) metabolism caused by mutations in ATP7B, a membrane-bound P1B-type ATPase responsible for Cu export from hepatic cells. The N-terminal part (~ 600 residues) of the multi-domain 1400-residue ATP7B constitutes six metal binding domains (MBDs), each of which can bind a copper ion, interact with other ATP7B domains as well as with different proteins. Although the ATP7B's MBDs have been investigated in vitro and in vivo intensively, it remains unclear how these domains modulate overall structure, dynamics, stability and function of ATP7B...
October 23, 2017: Biometals: An International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine
https://www.readbyqxmd.com/read/29059476/influence-of-apolipoprotein-e-polymorphism-on-susceptibility-of-wilson-disease
#5
Shubhrajit Roy, Kausik Ganguly, Prosenjit Pal, Sampurna Ghosh, Shyamal K Das, Prasanta K Gangopadhyay, Ashish Bavdekar, Kunal Ray, Mainak Sengupta, Jharna Ray
Wilson disease (WD) is an autosomal-recessive disorder caused by mutations in the ATP7B gene leading to abnormal copper deposition in liver and brain. WD manifests diverse neurological and hepatic phenotypes and different age of onset, even among the siblings, with same mutational background suggesting complex nature of the disease and involvement of other candidate genes. In that context, Apolipoprotein E (APOE) and Prion Protein (PRNP) have been proposed to be potential candidates for modifying the WD phenotype and age of onset...
October 23, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28965584/identification-of-eight-copper-cu-uptake-related-genes-from-yellow-catfish-pelteobagrus-fulvidraco-and-their-tissue-expression-and-transcriptional-responses-to-dietborne-cu-exposure
#6
Jie Cheng, Zhi Luo, Guang-Hui Chen, Chuan-Chuan Wei, Mei-Qin Zhuo
The present working hypothesis is that absorption of dietary Cu is related to mRNA expressions of genes involved in Cu uptake and transport of the intestine in fish. To this end, the full-length cDNA sequences of eight Cu uptake related genes, including two isoforms of copper transporter genes (ctr1 and ctr2), three copper chaperone genes (atox1, ccs and cox17), two Cu-ATPase genes (atp7a and atp7b) and divalent metal ion transporter 1 (dmt1), were cloned and characterized in yellow catfish P. fulvidraco, respectively...
December 2017: Journal of Trace Elements in Medicine and Biology
https://www.readbyqxmd.com/read/28958857/the-function-of-atpase-copper-transporter-atp7b-in-intestine
#7
Hannah Pierson, Abigael Muchenditsi, Byung-Eun Kim, Martina Ralle, Nicholas Zachos, Dominik Huster, Svetlana Lutsenko
BACKGROUND & AIMS: Wilson disease is a disorder of copper (Cu) misbalance caused by mutations in ATP7B. ATP7B is highly expressed in the liver-the major site of Cu accumulation in patients with Wilson disease. The intestine also expresses ATP7B, but little is known about the contribution of intestinal ATP7B to normal intestinal homeostasis or to Wilson disease manifestations. We characterized the role of ATP7B in mouse intestinal organoids and tissues. METHODS: We collected intestinal tissues from ATP7B-knockout (Atp7b(-/-)) and control mice, and established 3-dimensional enteroids...
September 25, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28926893/-effect-of-intratumor-heterogeneity-of-esophageal-squamous-cell-carcinoma-on-chemotherapy-sensitivity
#8
L Sun, W Wu, M Yan, P L Han, X Zhan, X W Ma, X G Cao, S Zhao, F Gao, Y Qi, W Cao
Objective: To investigate the relationship of heterogeneity of esophageal squamous cell carcinoma (ESCC) and chemotherapy sensitivity. Methods: Five different region specimens isolated from primary tumor(R1~R5)and 1 specimen(R6)isolated from adjacent non-neoplastic tissue from 10 ESCC patients who underwent surgical treatment were cultured in vitro. The inhibitory effect of cisplatin on proliferation of ESCC cells from different regions was determined by methyl thiazolyl tetrazolium (MTT). The cell cycle and apoptosis induced by cisplatin was determined by flow cytometry (FCM) analysis...
September 23, 2017: Zhonghua Zhong Liu za Zhi [Chinese Journal of Oncology]
https://www.readbyqxmd.com/read/28900031/the-metal-chaperone-atox1-regulates-the-activity-of-the-human-copper-transporter-atp7b-by-modulating-domain-dynamics
#9
Corey H Yu, Nan Yang, Jameson Bothe, Marco Tonelli, Sergiy Nokhrin, Natalia V Dolgova, Lelita Braiterman, Svetlana Lutsenko, Oleg Y Dmitriev
The human transporter ATP7B delivers copper to the biosynthetic pathways and maintains copper homeostasis in the liver. Mutations in ATP7B cause the potentially fatal hepatoneurological disorder Wilson disease. The activity and intracellular localization of ATP7B are regulated by copper, but the molecular mechanism of this regulation is largely unknown. We show that the copper chaperone Atox1, which delivers copper to ATP7B, and the group of the first three metal-binding domains (MBD1-3) are central to the activity regulation of ATP7B...
November 3, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28856630/identification-of-two-novel-mutations-in-the-atp7b-gene-that-cause-wilson-s-disease
#10
Hong-Wen Zhu, Zhong-Bin Tao, Gang Su, Qiao-Ying Jin, Liang-Tao Zhao, Jia-Rui Zhu, Jun Yan, Tian-Yu Yu, Jie-Xian Ding, Yu-Min Li
BACKGROUND: Wilson's disease is an autosomal recessive disorder characterized by liver disease and/or neurologic deficits due to copper accumulation and is caused by pathogenic mutations in the ATP7B gene. DATA SOURCES: Two unrelated Chinese patients born to nonconsanguineous parents who were diagnosed with earlyonset Wilson's disease. DNA sequencing and bioinformation analysis were conducted. RESULTS: We have identified four mutations in two family trios, of which two were novel, namely, c...
August 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28855492/multiple-pseudofractures-due-to-fanconi-s-syndrome-associated-with-wilson-s-disease
#11
Mai Tsuchiya, Ryusuke Takaki, Fumikazu Kobayashi, Takamura Nagasaka, Kazumasa Shindo, Yoshihisa Takiyama
We report a 40-year-old man who presented with multiple bone pseudofractures after about 20 years from the onset of Wilson's disease (WD). At age 36, he first noticed pain in his left shoulder. At age 39, he had multiple chest pain. On neurologic examinations, dysarthria and dysphagia due to pseudobulbar palsy, rigidity and tremor on right upper lim were observed. WD was confirmed because of low levels of plasma cupper and ceruloplasmin in addition to ATP7B gene mutation. The chest X-ray revealed multiple fractures of the several ribs...
September 30, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28852304/wilson-s-disease-prospective-developments-towards-new-therapies
#12
EDITORIAL
Giusy Ranucci, Roman Polishchuck, Raffaele Iorio
Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism, caused by mutations in the ATP7B gene. A clear demand for novel WD treatment strategies has emerged. Although therapies using zinc salts and copper chelators can effectively cure WD, these drugs exhibit limitations in a substantial pool of WD patients who develop intolerance and/or severe side effects. Several lines of research have indicated intriguing potential for novel strategies and targets for development of new therapies. Here, we review these new approaches, which comprise correction of ATP7B mutants and discovery of new compounds that circumvent ATP7B-deficiency, as well as cell and gene therapies...
August 14, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28842499/human-copper-transporter-atp7b-wilson-disease-protein-forms-stable-dimers-in-vitro-and-in-cells
#13
Samuel Jayakanthan, Lelita T Braiterman, Nesrin M Hasan, Vinzenz M Unger, Svetlana Lutsenko
ATP7B is a copper-transporting P1B-type ATPase (Cu-ATPase) with an essential role in human physiology. Mutations in ATP7B cause a potentially fatal Wilson disease, and changes in ATP7B expression are observed in several cancers. Despite its physiologic importance, the biochemical information about ATP7B remains limited owing to a complex multi-domain organization of the protein. By analogy with the better characterized prokaryotic Cu-ATPases, ATP7B is assumed to be a single-chain monomer. We show that in eukaryotic cells, human ATP7B forms dimers that can be purified following solubilization...
August 24, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28820536/atp7a-and-atp7b-regulate-copper-homeostasis-in-developing-male-germ-cells-in-mice
#14
Mateusz Ogórek, Małgorzata Lenartowicz, Rafał Starzyński, Aneta Jończy, Robert Staroń, Andrzej Doniec, Wojciech Krzeptowski, Aleksandra Bednarz, Olga Pierzchała, Paweł Lipiński, Zenon Rajfur, Zbigniew Baster, Patrycja Gibas-Tybur, Paweł Grzmil
The maintenance of copper homeostasis is critical for all cells. As learned from mice with disturbed copper metabolism, this trace element is also important for spermatogenesis. The experiments conducted in yeasts have demonstrated that appropriate copper level must be preserved to enable meiosis progression; however, increased copper level is toxic for cells. This study aims to analyze the expression profile of Atp7a and Atp7b and other genes encoding copper-related proteins during spermatogenesis in mice...
September 20, 2017: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/28805879/downregulation-of-hepatic-multi-drug-resistance-protein-1-mdr1-after-copper-exposure
#15
Sara Reinartz Groba, Sarah Guttmann, Christoph Niemietz, Friedrich Bernick, Vanessa Sauer, Oliver Hachmöller, Uwe Karst, Hans Zischka, Andree Zibert, Hartmut H Schmidt
Copper homeostasis is strictly regulated in mammalian cells. We investigated the adaptation of hepatocytes after long-term copper exposure. Copper-resistant hepatoma HepG2 cell lines lacking ATP7B were generated. Growth, copper accumulation, gene expression, and transport were determined. Hepatocyte-like cells derived from a Wilson disease (WD) patient and the liver of a WD animal model were also studied. The rapidly gained copper resistance was found to be stable, as subculturing of cells in the absence of added copper (weaning) did not restore copper sensitivity...
September 20, 2017: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/28763775/heat-indicators-of-oxidative-stress-inflammation-and-metal-transport-show-dependence-of-cadmium-pollution-history-in-the-liver-of-female-zebrafish
#16
Qing-Ling Zhu, Sai-Nan Guo, Shuang-Shuang Yuan, Zhen-Ming Lv, Jia-Lang Zheng, Hu Xia
Environmental stressors such as high temperature and metal exposure may occur sequentially, simultaneously, previously in aquatic ecosystems. However, information about whether responses to high temperature depend on Cd exposure history is still unknown in fish. Zebrafish were exposed to 0 (group 1), 2.5 (group 2) and 5μg/L (group 3) cadmium (Cd) for 10 weeks, and then each group was subjected to Cd-free water maintained at 26°C and 32°C for 7days respectively. 26 indicators were used to compare differences between 26°C and 32°C in the liver of female zebrafish, including 5 biochemical indicators (activity of Cu/Zn-SOD, CAT and iNOS; LPO; MT protein), 8 molecular indicators of oxidative stress (mRNA levels of Nrf2, Cu/Zn-SOD, CAT, HSF1, HSF2, HSP70, MTF-1 and MT), 5 molecular indicators of inflammation (mRNA levels of IL-6, IL-1β, TNF-α, iNOS and NF-κB), 8 molecular indicators of metal transport (mRNA levels of, ZnT1, ZnT5, ZIP8, ZIP10, ATP7A, ATP7B and CTR1)...
July 20, 2017: Aquatic Toxicology
https://www.readbyqxmd.com/read/28751535/how-to-use-tests-for-disorders-of-copper-metabolism
#17
Jane Armer, Christian De Goede
In paediatrics, one of our main aims in the diagnostic process is to identify any treatable conditions. The copper metabolism disorder Wilson's disease (WD) is one such condition that is caused by mutations in the ATP7B gene. Delay in treatment could result in irreversible disability or even death. Although liver disease is the most common presenting feature in children, some children may initially present with a subtle neurological presentation only. In patients presenting with dystonia, tremor, dysarthria or with a deterioration in school performance, there should be a high index of suspicion for WD...
July 27, 2017: Archives of Disease in Childhood. Education and Practice Edition
https://www.readbyqxmd.com/read/28737129/association-between-polymorphisms-in-ctr1-ctr2-atp7a-and-atp7b-and-platinum-resistance-in-epithelial-ovarian-cancer
#18
Tailin Li, Jingbo Peng, Feiyue Zeng, Keqiang Zhang, Jinyang Liu, Xi Li, Qianying Ouyang, Guo Wang, Liansheng Wang, Zhaoqian Liu, Yingzi Liu
The copper transporters <italic>CTR1</italic>, <italic>CTR2</italic>, <italic>ATP7A</italic>, and <italic>ATP7B</italic> regulate intracellular concentration of platinum by mediating its uptake and efflux in cells. We sought to explore the effect of genetic polymorphisms in <italic>CTR1</italic>, <italic>CTR2</italic>, <italic>ATP7A</italic>, and <italic>ATP7B</italic> on platinum resistance in patients suffering from epithelial ovarian cancer (EOC)...
October 2017: International Journal of Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28717664/genetic-variation-spectrum-in-atp7b-gene-identified-in-latvian-patients-with-wilson-disease
#19
Agnese Zarina, Ieva Tolmane, Madara Kreile, Aleksandrs Chernushenko, Gunta Cernevska, Ieva Pukite, Ieva Micule, Zita Krumina, Astrida Krumina, Baiba Rozentale, Linda Piekuse
BACKGROUND: Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by allelic variants in ATP7B gene. More than 500 distinct variants have been reported, the most common WD causing allelic variant in the patients from Central, Eastern, and Northern Europe is H1069Q. METHODS: All Latvian patients with clinically confirmed WD were screened for the most common mutation p.H1069Q by PCR Bi-PASA method. Direct DNA sequencing of gene ATP7B (all 21 exons) was performed for the patients with WD symptoms, being either heterozygous for H1069Q or without it on any allele...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28663680/hepatocellular-carcinoma-an-unusual-complication-of-longstanding-wilson-disease
#20
Deepak Gunjan, Shalimar, Neeti Nadda, Saurabh Kedia, Baibaswata Nayak, Shashi B Paul, Shivanand Ramachandra Gamanagatti, Subrat K Acharya
Wilson disease is caused by the accumulation of copper in the liver, brain or other organs, due to the mutation in ATP7B gene, which encodes protein that helps in excretion of copper in the bile canaliculus. Clinical presentation varies from asymptomatic elevation of transaminases to cirrhosis with decompensation. Hepatocellular carcinoma is a known complication of cirrhosis, but a rare occurrence in Wilson disease. We present a case of neurological Wilson disease, who later developed decompensated cirrhosis and hepatocellular carcinoma...
June 2017: Journal of Clinical and Experimental Hepatology
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