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 Experiment Videos

Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6

G Manfredi1, N Gupta, M E Vazquez-Memije

  • 1Department of Neurology, H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Disorders, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA. gm73@columbia.edu

The Journal of Biological Chemistry
|March 27, 1999
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Impact of ECOG performance status 2 participants on outcomes of pivotal cancer clinical trials: a meta-analysis and meta-regression.

ESMO open·2026
Same author

Upregulation of MAM by C99 disrupts ACSL4 activity and phospholipid homeostasis in Alzheimer's disease models.

bioRxiv : the preprint server for biology·2025
Same author

The contribution of mitochondria-associated ER membranes to cholesterol homeostasis.

bioRxiv : the preprint server for biology·2024
Same author

Dysfunction of proprioceptive sensory synapses is a pathogenic event and therapeutic target in mice and humans with spinal muscular atrophy.

medRxiv : the preprint server for health sciences·2024
Same author

Glucose Hypometabolism Prompts RAN Translation and Exacerbates C9orf72-related ALS/FTD Phenotypes.

bioRxiv : the preprint server for biology·2023
Same author

Light-induced charge generation in polymeric nanoparticles restores vision in advanced-stage retinitis pigmentosa rats.

Nature communications·2022
Same journal

Isotope-Edited ESEEM: A New Method for Probing Copper Binding Sites in Neurodegenerative Proteins.

The Journal of biological chemistry·2026
Same journal

Introduction to the Thematic Review Series on Intracellular Protein Degradation. The ubiquitous biology of intracellular protein degradation: a tribute to Alfred L. ("Fred") Goldberg.

The Journal of biological chemistry·2026
Same journal

Correction: Aromatic residue-rich amino-terminal segments of temporin L self-assemble into collagen-mimetic peptides with cell-adhesion properties.

The Journal of biological chemistry·2026
Same journal

YhbO is a DJ-1 family glyoxalase and α-oxoaldehyde hydratase that confers resistance to reactive carbonyl stress (112).

The Journal of biological chemistry·2026
Same journal

ARMH3 acts as a central scaffold at the Golgi/TGN through interactions with Arl5, GBF1, and PI4KB.

The Journal of biological chemistry·2026
Same journal

PAX8 controls proximal tubule epithelial identity and stress response through epigenetic modification of distal regulatory elements.

The Journal of biological chemistry·2026
See all related articles

A specific mitochondrial DNA mutation (T8993G) causes neurological disorders. Researchers developed a novel cell culture method using galactose and oligomycin to select against this mutation, potentially aiding in disease research.

Area of Science:

  • Molecular Biology
  • Genetics
  • Biochemistry

Background:

  • The T8993G mutation in mitochondrial DNA is linked to neuropathy, ataxia, retinitis pigmentosa, and Leigh's syndrome.
  • This mutation alters the ATPase 6 protein in the mitochondrial ATP synthase complex, leading to reduced ATP synthesis.
  • Cells with high mutation levels show no growth defect in standard conditions, hindering study.

Purpose of the Study:

  • To develop selective culture conditions to identify and study the T8993G mutation.
  • To create a method for selecting against the T8993G mutation in cellular models.

Main Methods:

  • Utilized galactose medium and oligomycin, a mitochondrial inhibitor, to create selective pressure.
  • Cultured fibroblasts with the T8993G mutation under these selective conditions.

Related Experiment Videos

  • Generated cytoplasmic hybrid clones with heteroplasmic levels of the mutation for analysis.

    • Main Results:

    • Selective conditions using galactose and oligomycin elicited a pathological phenotype in T8993G cells.
    • These conditions enabled the rapid selection of wild-type mitochondrial DNA over the T8993G mutant.
    • In heteroplasmic clones, selection increased the wild-type molecule fraction from 16% to 28%.

    Conclusions:

    • Galactose-oligomycin selection is an effective method for studying mitochondrial DNA mutations affecting ATP synthase.
    • This approach can be used to enrich for wild-type mitochondrial DNA in heteroplasmic cell populations.
    • The findings provide a valuable tool for investigating mitochondrial diseases like Leigh's syndrome.