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Related Experiment Video

Updated: May 11, 2026

Positron Emission Tomography Using 64-Copper as a Tracer for the Study of Copper-Related Disorders

Positron Emission Tomography Using 64-Copper as a Tracer for the Study of Copper-Related Disorders

Published on: April 28, 2023

[Wilson disease - factors affecting clinical presentation].

Tomasz Litwin¹, Anna Członkowska

¹Instytut Psychiatrii i Neurologii, II Klinika Neurologii, ul. Sobieskiego 9, 02-957 Warszawa. tomlit@medprakt.pl

Neurologia I Neurochirurgia Polska

|May 8, 2013

Summary

Wilson disease (WD) results from ATP7B gene mutations affecting copper metabolism. This review examines factors beyond genetics, like gene polymorphisms and oxidative stress, influencing WD presentation and treatment efficacy.

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Published on: September 7, 2019

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Last Updated: May 11, 2026

Positron Emission Tomography Using 64-Copper as a Tracer for the Study of Copper-Related Disorders

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Published on: April 28, 2023

Ion Mobility-Mass Spectrometry Techniques for Determining the Structure and Mechanisms of Metal Ion Recognition and Redox Activity of Metal Binding Oligopeptides

Ion Mobility-Mass Spectrometry Techniques for Determining the Structure and Mechanisms of Metal Ion Recognition and Redox Activity of Metal Binding Oligopeptides

Published on: September 7, 2019

Area of Science:

Genetics and Molecular Biology
Biochemistry
Clinical Medicine

Context:

Wilson disease (WD) is a rare genetic disorder characterized by impaired copper metabolism.
Copper accumulation in organs like the liver, brain, and eyes leads to significant secondary damage.
The ATP7B gene mutation is the primary cause, but disease presentation varies widely.

Purpose:

To review and assess the clinical significance of various factors influencing Wilson disease presentation.
To explore genetic and environmental factors beyond ATP7B mutations that contribute to WD variability.
To identify potential therapeutic targets by understanding factors affecting disease progression and treatment response.

Summary:

WD is caused by ATP7B gene mutations, but genotype alone doesn't explain the wide spectrum of clinical manifestations.
Factors such as polymorphisms in genes (apolipoprotein E, prion-related protein, MTHFR, etc.), iron metabolism, gender, inflammation, and oxidative stress are implicated.
Over 500 ATP7B mutations are known, yet disease onset, symptoms, and treatment outcomes differ significantly among patients.

Impact:

Understanding these factors can refine WD diagnosis and prognosis.
Identifying key modulators of WD presentation may lead to personalized therapeutic strategies.
This review provides insights for future research into novel treatment approaches for Wilson disease.