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

Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
Meiosis I01:49

Meiosis I

Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...
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...
Translation01:31

Translation

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 Life
Translation01:31

Translation

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 Life

You might also read

Related Articles

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

Sort by
Same author

Folate Receptor Alpha Autoantibodies in Vector-Borne Disease Populations.

Diseases (Basel, Switzerland)·2026
Same author

A Systematic Review of Folate and the Human Enteric Microbiome: Biological Mechanisms and Clinical Implications.

International journal of molecular sciences·2026
Same author

Quantitative high-content profiling of mitochondrial morphology with automated statistical analysis and integrated data visualization.

Methods in cell biology·2026
Same author

Gut-Brain Inflammation and Disrupted Homeostasis Due to Activation of Mast Cells and Microglia.

International journal of molecular sciences·2026
Same author

Measurement of respiration in ex vivo mitochondria isolated from fresh human brain.

Brain research·2026
Same author

Editorial: Early Metabolic Drivers of Neurodevelopmental Disorders: Potential Pathways to Early Detection and Novel Interventions.

Journal of the American Academy of Child and Adolescent Psychiatry·2025
Same journal

Genetic Etiologies and Risk Factors for Regressive Autism and Childhood Disintegrative Disorder: A Scoping Review.

Journal of child neurology·2026
Same journal

Birmingham, 1963.

Journal of child neurology·2026
Same journal

Hyperintensity on Diffusion-Weighted Imaging in a MELAS Patient Does Not Necessarily Mean Cytotoxic Edema.

Journal of child neurology·2026
Same journal

Neuromuscular Symptoms of <i>ORAI1</i>-Related Immunodeficiency.

Journal of child neurology·2026
Same journal

Symptoms of Obsessive-Compulsive Disorder, Attention-Deficit/Hyperactivity Disorder, and Autism Spectrum Disorder in Children and Adolescents Attending a Headache Outpatient Clinic and School-Based Controls.

Journal of child neurology·2026
Same journal

Acute Encephalopathy From Central Nervous System Hemophagocytic Lymphohistiocytosis (CNS HLH) in X-Linked Lymphoproliferative Disease Type 1 (XLP-1).

Journal of child neurology·2026
See all related articles

Related Experiment Video

Updated: Jun 22, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

15q11.2-13 duplication, mitochondrial dysfunction, and developmental disorders.

Richard E Frye1

  • 1Department of Pediatrics and Neurology, Division of Child and Adolescent Neurology, University of Texas Health Science Center, Houston, Texas, USA. Richard.E.Frye@uth.tmc.edu

Journal of Child Neurology
|June 19, 2009
PubMed
Summary
This summary is machine-generated.

The 15q11-13 duplication is linked to mitochondrial dysfunction, specifically Complex III deficiency. This finding suggests the SNRPN gene interaction may cause apoptosis in developmental disorders.

More Related Videos

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

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Related Experiment Videos

Last Updated: Jun 22, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

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

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Area of Science:

  • Genetics
  • Developmental Biology
  • Mitochondrial Biology

Background:

  • Duplication in the 15q11-13 chromosomal region is associated with various developmental phenotypes.
  • Recent studies link this duplication to specific mitochondrial abnormalities, including Complex III deficiency.

Observation:

  • This report details a third case presenting with the 15q11-13 duplication and similar mitochondrial dysfunction.
  • Genetic analysis excluded the UBE3A gene as the causative factor in this specific presentation.

Findings:

  • The duplicated SNRPN gene may interact with nuclear respiratory factor 1.
  • This interaction could destabilize mitochondrial complexes and trigger apoptosis under metabolic stress, explaining the observed abnormalities.

Implications:

  • The findings suggest a mechanism linking 15q11-13 duplication to mitochondrial dysfunction and developmental issues.
  • Considering the prevalence of this duplication in children with developmental disorders, its association with mitochondrial dysfunction warrants further investigation.