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

Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Nucleosome Remodeling02:54

Nucleosome Remodeling

Nucleosomes are the basic units of chromatin compaction. Each nucleosome consists of the DNA bound tightly around a histone core, which makes the DNA inaccessible to DNA binding proteins such as DNA polymerase and RNA polymerase. Hence, the fundamental problem is to ensure access to DNA when appropriate, despite the compact and protective chromatin structure.
Nucleosome remodeling complex
Eukaryotic cells have specialized enzymes called ATP-dependent nucleosome remodeling enzymes. These enzymes...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Nucleotide Excision Repair01:38

Nucleotide Excision Repair

DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
Nucleotide Excision Repair01:08

Nucleotide Excision Repair

Overview
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...

You might also read

Related Articles

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

Sort by
Same author

Phospho‑regulation of Cdc14A by polo‑like kinase 1 is involved in β‑cell function and cell cycle regulation.

Molecular medicine reports·2019
Same author

Prophylactic negative pressure wound therapy for surgical site infection in obese women undergoing cesarean section: an evidence synthesis with trial sequential analysis.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·2019
Same author

CaSR participates in the regulation of vascular tension in the mesentery of hypertensive rats via the PLC‑IP3/AC‑V/cAMP/RAS pathway.

Molecular medicine reports·2019
Same author

Developing a Versatile Shotgun Cloning Strategy for Single-Vector-Based Multiplex Expression of Short Interfering RNAs (siRNAs) in Mammalian Cells.

ACS synthetic biology·2019
Same author

Novel pathogenic mutations in disorders of sex development associated genes cause 46,XY complete gonadal dysgenesis.

Gene·2019
Same author

Myelin Oligodendrocyte Glycoprotein (MOG) Antibody Diseases in Children in Central South China: Clinical Features, Treatments, Influencing Factors, and Outcomes.

Frontiers in neurology·2019
Same journal

Isolated Cranial Tremors: A Reappraisal.

Seminars in neurology·2026
Same journal

Dystonia and Tremor.

Seminars in neurology·2026
Same journal

Pendular nystagmus and oculopalatal tremor.

Seminars in neurology·2026
Same journal

Sanjay Pandey, MBBS, MD, DNB, DM, FIAN, and Aasef Shaikh, MD, PhD.

Seminars in neurology·2026
Same journal

Tremor.

Seminars in neurology·2026
Same journal

Carotid Disease.

Seminars in neurology·2026
See all related articles

Related Experiment Video

Updated: May 25, 2026

Electrophoretic Analysis of Replication Through Structure-Prone DNA Repeats Within the SV40-Based Human Episome
05:22

Electrophoretic Analysis of Replication Through Structure-Prone DNA Repeats Within the SV40-Based Human Episome

Published on: September 13, 2024

Epigenetics in nucleotide repeat expansion disorders.

Fang He1, Peter K Todd

  • 1Department of Neurology, University of Michigan, Ann Arbor, Michigan 48109, USA.

Seminars in Neurology
|January 24, 2012
PubMed
Summary
This summary is machine-generated.

Nucleotide repeat expansion disorders reveal the role of epigenetics in neurodevelopmental and neurodegenerative diseases. Therapies targeting epigenetic modulation offer potential treatments for these conditions.

More Related Videos

Measuring RAN Peptide Toxicity in C. elegans
10:49

Measuring RAN Peptide Toxicity in C. elegans

Published on: April 30, 2020

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

Related Experiment Videos

Last Updated: May 25, 2026

Electrophoretic Analysis of Replication Through Structure-Prone DNA Repeats Within the SV40-Based Human Episome
05:22

Electrophoretic Analysis of Replication Through Structure-Prone DNA Repeats Within the SV40-Based Human Episome

Published on: September 13, 2024

Measuring RAN Peptide Toxicity in C. elegans
10:49

Measuring RAN Peptide Toxicity in C. elegans

Published on: April 30, 2020

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

Area of Science:

  • Neuroscience
  • Genetics
  • Epigenetics

Background:

  • Nucleotide repeat expansion disorders are a significant area of study in neurodevelopmental and neurodegenerative diseases.
  • Epigenetic mechanisms play a crucial role in the pathogenesis of these neurologic conditions.

Purpose of the Study:

  • To review the ways epigenetic processes contribute to the pathophysiology of repeat expansion disorders.
  • To discuss the therapeutic potential of epigenetic modulation for these disorders.

Main Methods:

  • Literature review of studies on nucleotide repeat expansion disorders and epigenetics.
  • Analysis of the role of epigenetic mechanisms in disease pathogenesis.
  • Discussion of current and future therapeutic strategies targeting epigenetic pathways.

Main Results:

  • Epigenetic processes are fundamental to understanding the development and progression of repeat expansion disorders.
  • Various epigenetic mechanisms contribute to the complex pathophysiology of these conditions.
  • Therapeutic strategies focused on epigenetic modulation show promise for treating a range of repeat expansion disorders.

Conclusions:

  • Epigenetics is central to the pathogenesis of nucleotide repeat expansion disorders.
  • Targeting epigenetic mechanisms represents a promising therapeutic avenue for these debilitating neurologic diseases.