New tools for Wilson’s disease diagnosis: exchangeable copper fraction

Djebrani‐Oussedik, Nouzha; Poujois, Aurélia

doi:10.21037/atm.2019.03.02

Cited by 63 publications

(64 citation statements)

References 43 publications

(50 reference statements)

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“…In healthy individuals, Cp accounts for more than 95% of serum copper [59]. Thus, the quantity of serum copper that is not bound to Cp (non-Cp copper, also known as ‘free’ or exchangeable copper (CuEXC) [60]) increased in patient M. during the progression of the disease. Chelex 100 resin, which specifically binds labile cupric Cu(II) ions, bound less than 10% of the total serum copper.…”

Section: Case Reportmentioning

confidence: 99%

Case of Early-Onset Parkinson’s Disease in a Heterozygous Mutation Carrier of the ATP7B Gene

Ilyechova

Miliukhina

Karpenko

et al. 2019

JPM

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In this paper, we report a clinically proven case of Parkinson’s disease (PD) with early onset in a patient who is a heterozygous mutation carrier of ATP7B (the Wilson’s disease gene). The patient was observed from 2011 to 2018 in the Center for Neurodegenerative Diseases, Institute of Experimental Medicine (St. Petersburg, Russia). During this period, the patient displayed aggravation of PD clinical symptoms that were accompanied by a decrease in the ceruloplasmin concentration (from 0.33 to 0.27 g/L) and an increase in serum nonceruloplasmin copper, which are typical of the late stages of Wilson’s disease. It was found that one of the alleles of exon 14 in the ATP7B gene, which partially codes of the nucleotide-binding domain (N-domain), carries a mutation not previously reported corresponding to Cys1079Gly substitution. Alignment of the ATP7B N-domain amino acid sequences of representative vertebrate species has shown that the Cys at 1079 position is conserved throughout the evolution. Molecular dynamic analysis of a polypeptide with Cys1079Gly substitution showed that the mutation causes profound conformational changes in the N-domain, which could potentially lead to impairment of its functions. The role of ATP7B gene mutations in PD development is discussed.

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Section: Case Reportmentioning

confidence: 99%

Case of Early-Onset Parkinson’s Disease in a Heterozygous Mutation Carrier of the ATP7B Gene

Ilyechova

Miliukhina

Karpenko

et al. 2019

JPM

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“…Ceruloplasmin (enzymatic) ferroxidase activity could aid in the direct quantification and speciation of copper in plasma, but it is not normally provided in clinical practice. Other parameters, including radioactive copper incorporation and exchangeable copper, appear promising and could potentially enable a better assessment of copper status, but remain unvalidated [32,33]. To study the effects of dietary components such as sugar consumption on transition metal levels and the resulting metabolic changes, improved clinical parameters for assessing these metal levels are necessary.…”

Section: Introductionmentioning

confidence: 99%

Effects of Dietary Glucose and Fructose on Copper, Iron, and Zinc Metabolism Parameters in Humans

et al. 2020

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Alterations of transition metal levels have been associated with obesity, hepatic steatosis, and metabolic syndrome in humans. Studies in animals indicate an association between dietary sugars and copper metabolism. Our group has conducted a study in which young adults consumed beverages sweetened with glucose, fructose, high fructose corn syrup (HFCS), or aspartame for two weeks and has reported that consumption of both fructose- and HFCS-sweetened beverages increased cardiovascular disease risk factors. Baseline and intervention serum samples from 107 participants of this study were measured for copper metabolism (copper, ceruloplasmin ferroxidase activity, ceruloplasmin protein), zinc levels, and iron metabolism (iron, ferritin, and transferrin) parameters. Fructose and/or glucose consumption were associated with decreased ceruloplasmin ferroxidase activity and serum copper and zinc concentrations. Ceruloplasmin protein levels did not change in response to intervention. The changes in copper concentrations were correlated with zinc, but not with iron. The decreases in copper, ceruloplasmin ferroxidase activity, ferritin, and transferrin were inversely associated with the increases in metabolic risk factors associated with sugar consumption, specifically, apolipoprotein CIII, triglycerides, or post-meal glucose, insulin, and lactate responses. These findings are the first evidence that consumption of sugar-sweetened beverages can alter clinical parameters of transition metal metabolism in healthy subjects.

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“…Alternative, more discriminative tests for WD have been developed and are being explored for regular use in clinical practice. They are rapid, reliable and non-invasive and would allow treatment to start without waiting for genetic test results 10…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Wilson disease in children and adolescents

et al. 2020

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Wilson disease (WD) is a rare, recessively inherited disorder of copper metabolism mainly affecting liver and brain. In childhood, it is known to have a predominant hepatic phenotype. It is likely that the low awareness for WD-associated neuropsychiatric signs and symptoms in this age group means that neurological Wilson’s disease is underdiagnosed in children and young people. Practitioners should be alert for this complication in children with or without liver disease. Management of children with WD requires a dedicated multidisciplinary approach involving hepatologists, geneticists, neurologists and psychiatrists to ensure subtle neuropsychiatric symptoms are identified early and addressed appropriately. This review highlights recent advances in hepatic and neuropsychiatric symptoms of WD in childhood, specific diagnostic tools and pitfalls and summarises existing and potential future treatment options.

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New tools for Wilson’s disease diagnosis: exchangeable copper fraction

Cited by 63 publications

References 43 publications

Case of Early-Onset Parkinson’s Disease in a Heterozygous Mutation Carrier of the ATP7B Gene

Case of Early-Onset Parkinson’s Disease in a Heterozygous Mutation Carrier of the ATP7B Gene

Effects of Dietary Glucose and Fructose on Copper, Iron, and Zinc Metabolism Parameters in Humans

Wilson disease in children and adolescents

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