Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Wilson's Disease.

Peter Ferenci1

  • 1Department of Internal Medicine IV, Gastroenterology and Hepatology, Medical University of Vienna, Vienna, Austria. peter.ferenci@meduniwien.ac.at

Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association
|October 20, 2005
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Portal hypertension and its prognostic implications in patients with Wilson's disease.

Alimentary pharmacology & therapeutics·2024
Same author

Long-term follow-up of patients discontinuing bulevirtide treatment upon long-term HDV-RNA suppression.

JHEP reports : innovation in hepatology·2023
Same author

Eligibility for antiviral therapy and treatment uptake in chronic hepatitis B patients referred to a European tertiary care center.

United European gastroenterology journal·2023
Same author

Corrigendum to "Ethyl glucuronide in hair detects a high rate of harmful alcohol consumption in presumed non-alcoholic fatty liver disease" [J Hepatol 77 (2022) 918-930].

Journal of hepatology·2023
Same author

The impact of transmembrane 6 superfamily 2 (TM6SF2) rs58542926 on liver-related events in patients with advanced chronic liver disease.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·2023
Same author

Letter: chronic HDV infection-is ignorance bliss? Authors' reply.

Alimentary pharmacology & therapeutics·2023
Same journal

Methodological and Reporting Caveats in Evaluating Facility Detection Metrics for Barrett's Esophagus.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association·2026
Same journal

Coffee Consumption and Improved Liver Outcomes: Clinical, Imaging, and Proteomic Evidence From the UK Biobank.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association·2026
Same journal

AGA Clinical Practice Update on Management of Clostridioides difficile Infection in Adults: Expert Review.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association·2026
Same journal

Endotype Clustering Contextualizes the Link Between Hepatic Steatosis and High-Risk Coronary Plaque.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association·2026
Same journal

Authors' Reply to the Letter by Dr. Toshikuni on Endotype Clustering, Hepatic Steatosis, and Vulnerable Coronary Plaque.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association·2026
Same journal

Blue Notes.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association·2026
See all related articles

Wilson's disease (WD) is a genetic disorder of copper metabolism. Genetic testing aids in diagnosing WD and screening families, though many mutations exist.

Area of Science:

  • Genetics
  • Biochemistry
  • Medical Diagnostics

Background:

  • Wilson's disease (WD) is an inherited disorder of copper metabolism caused by mutations in the ATP7B gene.
  • Copper accumulation in organs like the liver, brain, and cornea leads to significant pathology.
  • Current diagnostic methods for WD lack a gold standard, relying on a combination of clinical and biochemical tests.

Purpose of the Study:

  • To review the current role and limitations of genetic testing in the clinical management of Wilson's disease.
  • To explore the utility of mutation analysis and haplotype analysis in WD diagnosis and family screening.

Main Methods:

  • Review of existing literature on Wilson's disease genetics and diagnostics.
  • Discussion of mutation analysis techniques, including allele-specific probes.

Related Experiment Videos

  • Consideration of haplotype analysis for carrier and sibling assessment.

    • Main Results:

    • Over 200 mutations in the ATP7B gene are associated with Wilson's disease, complicating direct mutation analysis.
    • Specific mutations (H1069Q, R778L) are frequent in certain populations, making targeted mutation detection useful.
    • Mutation analysis is currently the most reliable method for screening families of index cases with known mutations.

    Conclusions:

    • Genetic testing, particularly mutation analysis, plays a crucial role in diagnosing Wilson's disease and managing affected families.
    • While challenges exist due to mutation diversity, targeted mutation detection and haplotype analysis offer valuable diagnostic tools.
    • Further standardization and validation of genetic testing are needed to establish its role in routine WD clinical management.