Advances in Treatment of Wilson Disease

Aggarwal, Annu; Bhatt, Mohit

doi:10.5334/tohm.435

Cited by 101 publications

(90 citation statements)

References 58 publications

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“…20 Mutation in ATP7B gene produces accumulation of copper in the body, a state known as Wilson’s disease 21 , while the mutation in ATP7A gene has the opposite effect and is responsible for a copper deficiency, known as the Menkes disease. 22 Both ATP7A and ATP7B can bind cisplatin at cysteine residue in their N-terminal metal binding domains forming a stable Pt 2+ -S bond. Elevated levels of these proteins correlate with a diminished accumulation of cisplatin and consequently with lower cytotoxicity.…”

Section: Uptake and Removal Of Cisplatin From Cellsmentioning

confidence: 99%

Cisplatin and beyond: molecular mechanisms of action and drug resistance development in cancer chemotherapy

Makovec

2019

Radiology and Oncology

355

246

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Background Platinum-based anticancer drugs are widely used in the chemotherapy of human neoplasms. The major obstacle for the clinical use of this class of drugs is the development of resistance and toxicity. It is therefore very important to understand the chemical properties, transport and metabolic pathways and mechanism of actions of these compounds. There is a large body of evidence that therapeutic and toxic effects of platinum drugs on cells are not only a consequence of covalent adducts formation between platinum complexes and DNA but also with RNA and many proteins. These processes determine molecular mechanisms that underlie resistance to platinum drugs as well as their toxicity. Increased expression levels of various transporters and increased repair of platinum-DNA adducts are both considered as the most significant processes in the development of drug resistance. Functional genomics has an increasing role in predicting patients’ responses to platinum drugs. Genetic polymorphisms affecting these processes may play an important role and constitute the basis for individualized approach to cancer therapy. Similar processes may also influence therapeutic potential of nonplatinum metal compounds with anticancer activity. Conclusions Cisplatin is the most frequently used platinum based chemotherapeutic agent that is clinically proven to combat different types of cancers and sarcomas.

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Section: Uptake and Removal Of Cisplatin From Cellsmentioning

confidence: 99%

Cisplatin and beyond: molecular mechanisms of action and drug resistance development in cancer chemotherapy

Makovec

2019

Radiology and Oncology

355

246

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“…Zn is used to treat Wilson's disease, a condition that leads to an excessive accumulation of Cu in the liver [367,368], as Zn supplementation may reduce Cu concentration in the body [344]. Although Zn therapy is often insufficient, it plays an important role as a second-line treatment, supplementing the use of trientine or penicillamine [369].…”

Section: Cu Vs Znmentioning

confidence: 99%

The Role of Fe, Zn, and Cu in Pregnancy

2020

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Iron (Fe), copper (Cu), and zinc (Zn) are microelements essential for the proper functioning of living organisms. These elements participatein many processes, including cellular metabolism and antioxidant and anti-inflammatory defenses, and also influence enzyme activity, regulate gene expression, and take part in protein synthesis. Fe, Cu, and Zn have a significant impact on the health of pregnant women and in the development of the fetus, as well as on the health of the newborn. A proper concentration of these elements in the body of women during pregnancy reduces the risk of complications such as anemia, induced hypertension, low birth weight, preeclampsia, and postnatal complications. The interactions between Fe, Cu, and Zn influence their availability due to their similar physicochemical properties. This most often occurs during intestinal absorption, where metal ions compete for binding sites with transport compounds. Additionally, the relationships between these ions have a great influence on the course of reactions in the tissues, as well as on their excretion, which can be stimulated or delayed. This review aims to summarize reports on the influence of Fe, Cu, and Zn on the course of single and multiple pregnancies, and to discuss the interdependencies and mechanisms occurring between Fe, Cu, and Zn.

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“…It is hypothesized that it may also enable a good evaluation of extra-hepatic involvement and its severity [22]. Studies shows that if WD is properly treated, in most patients the liver can be stabilized, even severe neurological disability reversed, and patients can resume normal lives [23]. To conclude, the association between copper deposition in specific brain areas due to Wilsons disease and zoophilic behaviour we need further studies with better investigative modalities, which will in turn help in drawing an individualized treatment plan.…”

Section: Resultsmentioning

confidence: 99%

A Rare Case of Wilsons Disease with Zoophilia

Barman¹,

Khasnobis²,

Nath³

2019

AJPN

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Wilsons Disease also known as hepatolenticular degeneration is a autosomal recessive disorder, characterized by abnormal copper deposition in the liver, brain, and other tissues caused by mutation in the copper transporting gene ATP7B. Patients presents with neurological and hepatic disorder. Psychiatric manifestation are common along with movement disorder but its association with paraphilic disorders like zoophilia is very rare and there is practically no literature regarding this in North-Eatern India. In this article we report the unique case of a 21 year old boy from rural Assam suffering from Wilson's disease with multiple neuropsychiatric manifestations among which zoophilia was noteworthy. This case report highlights a rare and atypical association between an adolescent patient of Wilson disease & zoophilia-a relatively rare paraphilic disorder. A 21 year old boy presented in the Psychiatry emergency department in a tertiary care hospital with aggressive, disorganized behavior with reported sexual act with a cow. Examination of the patient also revealed massive organomegaly and K-F ring which on further investigation confirmed the diagnosis of Wilsons Disease. The occurrence of zoophilic behavior in Wilsons disease is very rare and we have not come across any such report regarding this. To conclude, the association between copper deposition in specific brain areas due to Wilsons disease and zoophilic behaviour we need further studies with better investigative modalities, which will in turn help in drawing an individualise treatment plan.

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Advances in Treatment of Wilson Disease

Cited by 101 publications

References 58 publications

Cisplatin and beyond: molecular mechanisms of action and drug resistance development in cancer chemotherapy

Cisplatin and beyond: molecular mechanisms of action and drug resistance development in cancer chemotherapy

The Role of Fe, Zn, and Cu in Pregnancy

A Rare Case of Wilsons Disease with Zoophilia

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