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Chronic Liver Disease
Published in Praveen S. Goday, Cassandra L. S. Walia, Pediatric Nutrition for Dietitians, 2022
Julia M. Boster, Kelly A. Klaczkiewicz, Shikha S. Sundaram
Wilson’s disease is an inherited copper-storage disease caused by a mutation in the ATP7B gene. The inability to adequately excrete copper leads to excessive copper accumulation in liver cells and deposition in other tissues, including the brain and eyes. Patients may present with an acute or chronic hepatitis, cirrhosis, or even acute liver failure (typically associated with renal failure and hemolysis). Neuropsychiatric symptoms can also occur due to copper deposition in the brain, including declining school performance, changes in mood, dysarthria (disturbance in speech), dysphagia (trouble swallowing), or tremor. Kaiser-Fleischer rings, which are brown bands located between the iris and cornea, may develop in the eyes. Without treatment, the liver and neurologic disease is progressive and life-threatening.
Paper 2
Published in Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw, The Final FRCR, 2020
Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw
Wilson disease can affect the liver, central nervous system and musculoskeletal system. The MRI changes are sometimes described as the ‘giant panda’ and ‘cub of the giant panda’ signs. This appearance is due to abnormal midbrain T2 hyperintensity. Abnormal copper deposition leads to high T2 signal in the tegmentum, caudate nuclei, thalami and putamina with sparing of the red nuclei and substantia nigra. Copper does not cause increased density on CT.
The Injured Cell
Published in Jeremy R. Jass, Understanding Pathology, 2020
Twenty-five percent of the body’s iron is stored as ferritin and haemosiderin. Haemosiderin is a partially denatured form of ferritin that forms aggregates visible microscopically as brown granules. Haemosiderin is stored within cells of the mononuclear/macrophage lineage, for example the Kupffer cells of the liver. This is not injurious, but excessive iron deposition involving parenchymal cells is toxic. Iron overload may result from repeated blood transfusions or from the autosomal recessive condition haemochromatosis. The organs at principal risk are the liver, heart and pancreas. In Wilson’s disease, also an autosomal recessive condition, copper accumulates in the liver and brain.
Role of curcumin and its nanoformulations in the treatment of neurological diseases through the effects on stem cells
Published in Journal of Drug Targeting, 2023
Nasim Sabouni, Hadi Zare Marzouni, Sepideh Palizban, Sepideh Meidaninikjeh, Prashant Kesharwani, Tannaz Jamialahmadi, Amirhossein Sahebkar
There is numerable research about the co-treatment of curcumin and iPSCs. According to the various therapeutic potential of iPSCs (especially by cell reprogramming) and the proven properties of curcumin to ameliorate neurological disorders, a reasonable approach to study the pathogenesis of neurological diseases. For example, a study in 2011 suggested the rescue of ATP7B function in hepatocyte-like cells from Wilson’s disease-induced pluripotent stem cells by using gene therapy or the chaperone drug curcumin. Wilson disease is a hepatic-neurological disorder caused by a mutation in the ATP7B gene responsible for transporting excess copper into bile and the bloodstream. Disrupting of ATP7B function leads to copper accumulation in hepatocytes. As a result, it is delivered into the bloodstream without linkage to ceruloplasmin and causes damage to the liver and brain. Hence, the study mentioned above could be an appropriate proposal for cell therapy for Wilson’s disease [195, 196].
Investigation of Thiol/Disulfide Homeostasis and Ischemia-Modified Albumin Levels in Children with Wilson Disease
Published in Fetal and Pediatric Pathology, 2022
Ferit Durankuş, Yakup Albayrak, Yavuz Tokgöz, Ömer Faruk Beşer, Ramazan Durankuş, Sebahat Çam, Eda Sünnetçi, Ömer Akarsu, Cemil Nural, Özcan Erel
Wilson disease (WD) results from the recessive inheritance of copper metabolism disorder related to mutations of the ATP7B gene. Copper accumulates and causes toxicities that commonly affect the tissues of the liver and brain. The childhood form of WD typically presents with a predominantly hepatic phenotype [1]. The clinical prevalence of WD is estimated at about 1:7026, and heterozygosity in the UK has been predicted as 2.5% of the general population [2, 3]. The etiopathogenesis is characterized by the defective functioning of the copper-transporting P-type ATPase due to mutations of the ATP7B gene. The defective ATPase causes a decreased production of ceruloplasmin, thereby preventing the export of copper from cells and promoting the increased accumulation of copper in the cells and the resultant toxicity [4].
Assay in serum of exchangeable copper and total copper using inductively coupled plasma mass spectrometry (ICP-MS): development, optimisation and evaluation of a routine procedure
Published in Scandinavian Journal of Clinical and Laboratory Investigation, 2020
Richard Daymond, Sarah L. Curtis, Vinita Mishra, Norman B. Roberts
The most important causative agent associated with copper toxicity is an increase in the non-caerulopolasmin bound copper (NCC) classified as the free or bioactive fraction that causes damage to various tissues in particular the liver and brain [1]. Such copper toxicity is associated primarily with Wilson Disease, a rare autosomal recessive disorder. This disease is treatable, but diagnosis can be problematic due to the conflicting information given by clinical signs and diagnostic tests. The laboratory tests to measure this free ‘toxic’ fraction include the calculation of non-caeruloplasmin copper from total serum copper and caeruloplasmin analysis [1]. The NCC fraction may be that loosely bound to albumin, transcuprein or amino acids and capable of increased cell uptake [2]. It has therefore been proposed that clinicians utilize a formula to calculate NCC as a means for assessing patients for copper toxicity and the diagnosis of WD [3]. The calculation is based upon the assumption that each caeruloplasmin molecule consistently binds six atoms of copper or 0.3% of the protein [NCC (µmol/L)] = [serum Cu (µmol/L)] − 47.2 × [caeruloplasmin (g/L)].