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

RNA Editing02:23

RNA Editing

RNA editing is a post-transcriptional modification where a precursor mRNA (pre-mRNA) nucleotide sequence is changed by base insertion, deletion, or modification. The extent of RNA editing varies from a few hundred bases, in mitochondrial DNA of trypanosomes, to a just single base, in nuclear genes of mammals. Even a single base change in the pre-mRNA can convert a codon for one amino acid into the codon for another amino acid or a stop codon. This type of re-coding can significantly affect the...
Riboswitches01:56

Riboswitches

Riboswitches are non-coding mRNA domains that regulate the transcription and translation of downstream genes without the help of proteins. Riboswitches bind directly to a metabolite and can form unique stem-loop or hairpin structures in response to the amount of the metabolite present. They have two distinct regions – a metabolite-binding aptamer and an expression platform.
The aptamer has high specificity for a particular metabolite which allows riboswitches to specifically regulate...
Mitochondrial Precursor Proteins01:39

Mitochondrial Precursor Proteins

Mitochondrial precursors are partially unfolded or loosely folded polypeptide chains. Newly synthesized precursors are inhibited from spontaneously folding into their native conformation by the cytosolic chaperones, heat shock proteins 70 (Hsp70), and mitochondrial import stimulation factors (MSFs). Precursors bound to MSFs are guided to the TOM70-TOM37 receptors, while precursors bound to Hsp70  chaperones are targetted to TOM20-TOM22 receptor complexes.
Most of the mitochondrial precursors...

You might also read

Related Articles

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

Sort by
Same author

Comparison of the siRNA and mRNA Carrying Capacity of Quaternary Ammonium β-Cyclodextrin Polymer and Polyethylenimine.

Pharmaceutics·2026
Same author

Hierarchical Functionalisation of UiO-66(Zr)-NH<sub>2</sub> with Cysteine, PEG, and SARS-CoV-2 Spike RBD to Facilitate ACE2 Receptor Targeting in Model Cells.

Nanomaterials (Basel, Switzerland)·2026
Same author

Progress in mast cell activation syndrome: the global consensus-2 diagnostic criteria at six years.

Diagnosis (Berlin, Germany)·2026
Same author

Lamin A depletion and RSG influence PPARγ DNA binding and chromatin organization in murine adult fibroblast cells.

Biophysical journal·2026
Same author

Imaging-guided photodynamic control of autophagy-apoptosis switching in breast cancer using hypericin-functionalized upconverting nanoparticles.

Journal of controlled release : official journal of the Controlled Release Society·2026
Same author

Genome-wide chromatin profiling reveals a nonlimiting role for RXR in macrophage-like cells stimulated with multiple nuclear receptor agonists.

The Journal of biological chemistry·2026

Related Experiment Video

Updated: Jul 10, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

TOP1MT rs2293925 is an enhancer-active regulatory SNP that shapes mitochondrial R-loop dynamics.

Dóra Varga1,2, Zsolt Ráduly1, Beáta Boros-Oláh1

  • 1MTA-DE Momentum, Genome Architecture and Recombination Research Group, Department of Molecular and Nanopharmaceutics, Faculty of Pharmacy, University of Debrecen, Hungary.

The FEBS Journal
|July 8, 2026
PubMed
Summary

A common genetic variant, rs2293925, enhances mitochondrial topoisomerase 1 (TOP1MT) expression, increasing mitochondrial R-loops. This finding links genetic variation to mitochondrial stress in neurodegenerative diseases like ALS.

Keywords:
Amyotrophic Lateral Sclerosis (ALS)DRIP‐seqR‐loopTOP1MTmitochondrionrs2293925topoisomerase

More Related Videos

Mitochondrial Transformation in Baker&#39;s Yeast to Study Translation and Respiratory Complex Assembly
09:53

Mitochondrial Transformation in Baker's Yeast to Study Translation and Respiratory Complex Assembly

Published on: June 7, 2024

Related Experiment Videos

Last Updated: Jul 10, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Mitochondrial Transformation in Baker&#39;s Yeast to Study Translation and Respiratory Complex Assembly
09:53

Mitochondrial Transformation in Baker's Yeast to Study Translation and Respiratory Complex Assembly

Published on: June 7, 2024

Area of Science:

  • Genetics
  • Molecular Biology
  • Neuroscience

Background:

  • Mitochondrial topoisomerase 1 (TOP1MT) is crucial for mitochondrial DNA (mtDNA) maintenance.
  • Dysfunctional mtDNA and RNA metabolism are linked to neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS).

Purpose of the Study:

  • To investigate the functional role of the common TOP1MT variant rs2293925 (R525W).
  • To explore the association between rs2293925, TOP1MT expression, and mitochondrial R-loop formation.
  • To determine the relevance of these findings in ALS patient samples.

Main Methods:

  • Utilized quantitative trait locus analysis, reporter assays, and allele-specific DNA-protein binding assays.
  • Employed isogenic cell models to study the effects of rs2293925 on TOP1MT expression and R-loops.
  • Analyzed mitochondrial R-loop signals in sporadic ALS patient samples and patient-derived neural stem cells.

Main Results:

  • The TOP1MT variant rs2293925 exhibits enhancer-like activity, increasing TOP1MT mRNA and protein levels.
  • rs2293925 is associated with elevated mitochondrial R-loop formation (RNA:DNA hybrids).
  • Increased mitochondrial R-loop signals were observed in ALS patient cohorts carrying rs2293925.

Conclusions:

  • The common variant rs2293925 influences TOP1MT expression and mitochondrial R-loop dynamics.
  • This genetic variation may contribute to mitochondrial nucleic acid stress relevant to ALS pathogenesis.
  • Findings suggest a link between common genetic variation and disease mechanisms in neurodegeneration.