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Neurological Disease
Published in John S. Axford, Chris A. O'Callaghan, Medicine for Finals and Beyond, 2023
This is a rare autosomal recessive disorder of copper metabolism due to mutations in the gene encoding ATP7B, a copper transporting-P-type ATPase. Patients may present with liver disease in childhood or with the neurological syndrome in adolescence. Neurological symptoms include impaired concentration, declining intellect, behavioural problems, involuntary movements and generalized dystonia, ataxia or an akinetic–rigid syndrome. Patients have a typical smiling facial appearance with drooling and often have slurred speech. There may be copper deposition in Descemet's membrane of the cornea, giving a greenish brown pigmentary (Kayser–Fleischer) ring, which may only be visible at slit-lamp examination.
In Vivo Study of Anti-Influenza Effect of Silver Nanoparticles in a Mouse Model
Published in Devarajan Thangadurai, Saher Islam, Charles Oluwaseun Adetunji, Viral and Antiviral Nanomaterials, 2022
Ludmila Puchkova, Mohammad Al Farroukh, Ekaterina Ilyechova, Irina Kiseleva
Besides, copper is trapped by metallothionein-Cu(I), glutathione (Cu(I)/Cu(II)), and COMMD1-Cu(II) system (Bhattacharjee et al. 2017). In this system, copper can change its oxidation state. The system may share copper with Cu-chaperones for cuproenzyme metalation, provide copper for copper-required signaling factors, transcription factors (HIF1α; NF-κB, Sp1, and other), and replenish the mitochondrial pool of non-catalytic copper. The excess of absorbed copper is excreted from the liver into the bile by the ATP7B protein.
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.
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].
Refractory liver dysfunction was remarkably improved with chelating agents of Wilson’s disease, in a patient with systemic lupus erythematosus-like syndrome after a parvovirus B19 infection
Published in Modern Rheumatology Case Reports, 2021
Shinichiro Nameki, Yuichi Maeda, Takayuki Shibahara, Jun Fukui, Takeshi Shimizu, Kazuhiko Bessho, Hiroshi Fujiwara
In our case, the initial immunosuppressive therapies partially ameliorated the increased transaminase levels along with an improvement of haemophagocytosis. However, prolonged liver dysfunction was observed approximately 3 months after the initiation of corticosteroid treatment. Liver biopsy revealed no signs of AIH. The underlying existence of a WD-like state was based on a low serum copper and low ceruloplasmin as well as increased copper levels in urine. However, this was not a typical WD case because the hepatic copper content in this patient was relatively low. Moreover, liver biopsy did not show steatosis, inflammation, and fibrosis, which suggested that this histological finding was not compatible with WD [12]. Although he had no heterozygous mutation of ATP7B, 15% of WD patients were reported to have no ATP7B mutation [5]. Therefore, although this was not a typical case of WD, our findings suggest that it is important to measure serum ceruloplasmin and copper in patients who show increased liver enzymes for unknown reasons. When the dysregulation of copper metabolism is observed, even if it is not a typical case of WD, physicians should consider using chelating agents used in WD treatment.