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

Pleiotropy01:33

Pleiotropy

40.7K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.7K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

13.7K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
13.7K
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

3.9K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.9K
Pedigree Analysis01:35

Pedigree Analysis

84.6K
Overview
84.6K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

209
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
209
Translation01:31

Translation

142.6K
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
142.6K

You might also read

Related Articles

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

Sort by
Same author

Sequential rescue strategy in refractory acute esophageal variceal bleeding: a retrospective study.

Polish archives of internal medicine·2026
Same author

Disorders Mimicking Wilson's Disease: Clinical, Biochemical, and Molecular Perspectives for Accurate Differential Diagnosis.

Diagnostics (Basel, Switzerland)·2026
Same author

Intermittent Fasting and Androgen Receptor Signaling in Prostate Cancer: Metabolic Crosstalk and Therapeutic Implications.

International journal of molecular sciences·2026
Same author

Guidelines for endoscopic treatment of postinflammatory pancreatic and peripancreatic fluid collections. Recommendations of the Endoscopic Surgery Section of the Association of Polish Surgeons, the Endoscopy Section of the Polish Society of Gastroenterology, the Polish Pancreatic Club, the Laparoscopic and Robotic Surgery Section of the Association of Polish Surgeons, and the Pancreatic Surgery Section of the Association of Polish Surgeons; formulated by an expert panel led by Prof. Mateusz Jagielski, MD, PhD.

Wideochirurgia i inne techniki maloinwazyjne = Videosurgery and other miniinvasive techniques·2026
Same author

Efficacy of Probiotic Treatment in Alcoholic Liver Disease: A Systematic Review of Animal Studies.

Nutrients·2026
Same author

Wilson's disease: does a neuropsychiatric phenotype without liver involvement truly exist?

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·2026

Related Experiment Video

Updated: Aug 3, 2025

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

9.3K

Wilson's Disease-Genetic Puzzles with Diagnostic Implications.

Grażyna Gromadzka1, Maria Bendykowska1, Adam Przybyłkowski2

  • 1Medical Faculty, Collegium Medicum, Cardinal Stefan Wyszyński University in Warsaw, ul. Wóycickiego 1/3, 01-938 Warsaw, Poland.

Diagnostics (Basel, Switzerland)
|April 13, 2023
PubMed
Summary

Wilson's disease (WND) genetic diagnosis is complex due to over 900 ATP7B gene variants. Clinical presentation is influenced by genotype, genetic modifiers, and epigenetics, complicating diagnosis and requiring biochemical confirmation.

Keywords:
ATP7BWilson’s diseasecopperdiagnosticsepigeneticsgeneticsgenotypephenotype

More Related Videos

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

1.4K
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

7.8K

Related Experiment Videos

Last Updated: Aug 3, 2025

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

9.3K
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

1.4K
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

7.8K

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Molecular Biology

Background:

  • Wilson's disease (WND) is an autosomal recessive disorder affecting copper metabolism, caused by mutations in the ATP7B gene.
  • High clinical variability in WND presents significant diagnostic challenges.
  • Understanding the genetic basis of WND is crucial for accurate diagnosis and management.

Purpose of the Study:

  • To review current genetic diagnostic strategies for Wilson's disease.
  • To explore the complexities of genotype-phenotype correlations in WND.
  • To identify factors influencing the clinical variability of Wilson's disease.

Main Methods:

  • Comprehensive literature review of PubMed, Science Direct, and Wiley Online Library databases.
  • Search terms included "Wilson's disease", "ATP7B genotype", "genotype-phenotype", "epigenetics", and "genetic modifiers".
  • Analysis of studies on WND diagnostic tests, variant pathogenicity, genetic counseling, and modifier factors.

Main Results:

  • Genetic diagnosis of WND utilizes diverse strategies, but the large number of ATP7B variants (>900) limits routine test utility.
  • Advanced sequencing requires biochemical confirmation due to diagnostic uncertainties and complex inheritance patterns like pseudodominance.
  • Genotype-phenotype relationships are intricate, with ATP7B genotype only partially determining the clinical picture.

Conclusions:

  • Wilson's disease diagnosis necessitates a multi-faceted approach, combining genetic testing with biochemical evidence.
  • Genetic and epigenetic factors, beyond ATP7B mutations, significantly modify WND's clinical presentation.
  • Further research into WND's genetic and epigenetic modifiers is essential for improved patient care.