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 Concept Videos

Diseases of the Liver and Gallbladder01:26

Diseases of the Liver and Gallbladder

Liver and gallbladder diseases are a significant health concern, with prominent conditions including cirrhosis, hepatitis, non-alcoholic fatty liver disease (NAFLD), and gallstones. Jaundice is a common manifestation of liver and biliary disease.
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not related to...
Pulmonary Tuberculosis I01:29

Pulmonary Tuberculosis I

Tuberculosis, often called TB, is a contagious illness primarily caused by Mycobacterium tuberculosis. It mainly affects the lung parenchyma but can also impact other body parts.
Causative Organism
The primary infectious agent causing tuberculosis is Mycobacterium tuberculosis, a slow-growing, acid-fast, aerobic rod that exhibits sensitivity to heat and ultraviolet light. Instances of Mycobacterium bovis and Mycobacterium avium contributing to the development of TB infection are rare.
Mode of...
Drug toxicity: Idiosyncratic Reactions01:16

Drug toxicity: Idiosyncratic Reactions

Idiosyncratic drug reactions represent abnormal chemical responses that vary significantly among individuals, ranging from extreme sensitivity to low doses to insensitivity to high doses. These reactions often occur due to the drug's covalent binding with serum proteins, forming a foreign hapten that triggers an immunotoxicological response. The variability in drug reactions has a strong pharmacogenetic foundation, with genetic differences crucial in how individuals metabolize drugs. For...
Graves' Disease I: Introduction01:28

Graves' Disease I: Introduction

Graves' disease is an autoimmune disorder that causes hyperthyroidism, or overactivity of the thyroid gland. It results from autoantibodies called thyroid-stimulating immunoglobulins (TSIs), which bind to thyroid-stimulating hormone (TSH) receptors, leading to overstimulation of hormone production and a hypermetabolic state.EtiologyAlthough considered idiopathic, Graves’ disease has well-established contributing factors. There is a strong genetic component, with increased prevalence in...
Graves Disease II: Pathophysiology01:24

Graves Disease II: Pathophysiology

Graves’ disease is an autoimmune disorder characterized by the production of thyroid-stimulating immunoglobulins (TSI) that activate TSH receptors, leading to excessive synthesis and release of thyroid hormones (T3 and T4) and resulting in hyperthyroidism.Among all causes of hyperthyroidism, Graves’ disease is the most common and can happen at any age, though it is more frequent in women. It produces a hypermetabolic state with features such as weight loss, tachycardia, tremor, and heat...
Jaundice01:25

Jaundice

Jaundice, or icterus, is the yellow discoloration of the skin, sclerae, and mucous membranes. It happens when plasma bilirubin levels rise above 2.5-3 mg/dL, leading to bilirubin deposition in tissue.Bilirubin is a byproduct of hemoglobin degradation. In macrophages, hemoglobin breaks down into globin and heme. Globin is converted into amino acids, while heme is turned into biliverdin by heme oxygenase, which is then reduced to unconjugated bilirubin by biliverdin reductase.Unconjugated...

You might also read

Related Articles

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

Sort by
Same author

Acute Gallbladder Hydrops and Arthritis: unusual initial manifestations of Wilson's Disease (WD): Case Report.

Prilozi·2012
Same author

Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·2004
Same author

Clinical, molecular, and PET study of a case of aceruloplasminaemia presenting with focal cranial dyskinesia.

Journal of neurology, neurosurgery, and psychiatry·2004
Same author

Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.

Human mutation·2002
Same author

How to make a metalloprotein.

Nature structural biology·2001
Same author

The metallochaperone Atox1 plays a critical role in perinatal copper homeostasis.

Proceedings of the National Academy of Sciences of the United States of America·2001

Related Experiment Video

Updated: Jul 3, 2026

Anti-Nuclear Antibody Screening Using HEp-2 Cells
13:01

Anti-Nuclear Antibody Screening Using HEp-2 Cells

Published on: June 23, 2014

Wilson's disease.

G Loudianos1, J D Gitlin

  • 1Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.

Seminars in Liver Disease
|November 15, 2000
PubMed
Summary

Wilson's disease is a genetic disorder causing copper buildup in the body, leading to liver and neurological damage. Early diagnosis and copper chelation therapy are crucial for managing this rare metabolic condition.

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Hepatology

Background:

  • Wilson's disease is an autosomal recessive genetic disorder.
  • It results from mutations in the ATP7B gene, affecting copper metabolism.
  • Copper accumulation in the liver, brain, and other organs causes progressive damage.

Purpose of the Study:

  • To summarize the key aspects of Wilson's disease.
  • To highlight diagnostic criteria and therapeutic approaches.
  • To underscore the importance of understanding copper homeostasis.

Main Methods:

  • Review of existing literature on Wilson's disease.
  • Analysis of clinical presentation, laboratory findings, and genetic basis.
  • Discussion of therapeutic strategies including chelation and transplantation.

More Related Videos

Ion Mobility-Mass Spectrometry Techniques for Determining the Structure and Mechanisms of Metal Ion Recognition and Redox Activity of Metal Binding Oligopeptides
11:04

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

Positron Emission Tomography Using 64-Copper as a Tracer for the Study of Copper-Related Disorders
06:52

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

Published on: April 28, 2023

Related Experiment Videos

Last Updated: Jul 3, 2026

Anti-Nuclear Antibody Screening Using HEp-2 Cells
13:01

Anti-Nuclear Antibody Screening Using HEp-2 Cells

Published on: June 23, 2014

Ion Mobility-Mass Spectrometry Techniques for Determining the Structure and Mechanisms of Metal Ion Recognition and Redox Activity of Metal Binding Oligopeptides
11:04

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

Positron Emission Tomography Using 64-Copper as a Tracer for the Study of Copper-Related Disorders
06:52

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

Published on: April 28, 2023

Main Results:

  • Wilson's disease presents with diverse clinical manifestations, including liver disease and neurological symptoms.
  • Diagnosis relies on decreased serum ceruloplasmin, increased urinary copper, and elevated hepatic copper.
  • Over 100 mutations in the ATP7B gene have been identified, often resulting in compound heterozygosity.

Conclusions:

  • Effective management of Wilson's disease involves early diagnosis and treatment with copper chelation therapy (e.g., penicillamine).
  • Liver transplantation is a curative option for patients with irreversible liver failure.
  • Research into the molecular basis of Wilson's disease provides insights into cellular copper homeostasis.