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

Mutations01:39

Mutations

Overview
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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...
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase01:27

Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase

Phase II biotransformation reactions are essential for detoxifying and eliminating xenobiotics, including many pharmaceutical compounds. These reactions typically involve conjugation, the covalent attachment of polar endogenous groups such as glucuronic acid, sulfate, methyl, or acetyl moieties to functional groups introduced during Phase I metabolism. The resulting conjugates are more water-soluble, enabling efficient renal or biliary excretion.The major classes of Phase II enzymes include...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
Hepatic Encephalopathy01:29

Hepatic Encephalopathy

DefinitionHepatic encephalopathy is a reversible neurologic syndrome that results from advanced liver dysfunction or portosystemic shunting. It leads to disturbances in cognition, behavior, and motor function due to the brain’s exposure to gut-derived toxins that the liver fails to detoxify.EtiologyThis condition develops either in the setting of acute fulminant hepatitis or progressively during chronic liver disease, such as cirrhosis and portal hypertension. Portosystemic shunting—including...

You might also read

Related Articles

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

Sort by
Same author

European guidelines on diagnosis and treatment of phenylketonuria: First revision.

Molecular genetics and metabolism·2025
Same author

Morphological correlates of anxiety-related experiences during a ketamine infusion.

The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry·2024
Same author

Molecular Pathology of Myotonic Dystrophy Type 1 in Iceland.

Molecular genetics & genomic medicine·2024
Same author

Long-term use of carglumic acid in methylmalonic aciduria, propionic aciduria and isovaleric aciduria in Italy: a qualitative survey.

European review for medical and pharmacological sciences·2022
Same author

Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus.

Molecular genetics and metabolism·2021
Same author

Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries.

Molecular genetics and metabolism·2021

Related Experiment Video

Updated: Jul 23, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

ETHE1 mutations are specific to ethylmalonic encephalopathy.

V Tiranti1, E Briem, E Lamantea

  • 1Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study ofChildren's Mitochondrial Disorders, National Neurological Institute C. Besta, Via Temolo 4, 20126 Milan, Italy.

Journal of Medical Genetics
|September 27, 2005
PubMed
Summary

Mutations in the ETHE1 gene cause ethylmalonic encephalopathy (EE). Researchers found no ETHE1 mutations in similar conditions, ruling out SCAD variants in EE and suggesting ETHE1 is the primary cause.

More Related Videos

Efficient Purification and LC-MS/MS-based Assay Development for Ten-Eleven Translocation-2 5-Methylcytosine Dioxygenase
10:33

Efficient Purification and LC-MS/MS-based Assay Development for Ten-Eleven Translocation-2 5-Methylcytosine Dioxygenase

Published on: October 15, 2018

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
08:56

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

Published on: October 10, 2025

Related Experiment Videos

Last Updated: Jul 23, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Efficient Purification and LC-MS/MS-based Assay Development for Ten-Eleven Translocation-2 5-Methylcytosine Dioxygenase
10:33

Efficient Purification and LC-MS/MS-based Assay Development for Ten-Eleven Translocation-2 5-Methylcytosine Dioxygenase

Published on: October 15, 2018

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
08:56

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

Published on: October 10, 2025

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Biochemistry

Background:

  • Ethylmalonic encephalopathy (EE) is a severe infantile metabolic disorder.
  • EE is characterized by brain lesions, lactic acidemia, and high ethylmalonic acid levels.
  • The ETHE1 gene's role in EE was recently identified.

Purpose of the Study:

  • To determine the extent to which ETHE1 mutations cause EE.
  • To investigate ETHE1 in patients with typical EE and related conditions.
  • To analyze the role of SCAD variants in EE etiology.

Main Methods:

  • Genetic analysis of the ETHE1 gene in 40 patients.
  • Western blot analysis of ETHE1 protein.
  • Two-dimensional blue native electrophoresis and 3D protein modeling.
  • Single nucleotide polymorphism (SNP) analysis of the SCAD gene.

Main Results:

  • All typical EE patients had ETHE1 mutations (frameshift, stop, splice, missense).
  • No ETHE1 mutations were found in non-EE ethylmalonic aciduria patients.
  • SCAD variants were ruled out in EE but prevalent in non-EE EMA patients.
  • ETHE1 protein functions as a supramolecular complex, likely a mitochondrial thioesterase.

Conclusions:

  • ETHE1 mutations are the primary cause of ethylmalonic encephalopathy.
  • ETHE1 is essential for normal neurological function in infants.
  • SCAD variants are not implicated in EE pathogenesis.