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

Genetic defects in the oxidative phosphorylation (OXPHOS) system.

Rolf J R J Janssen1, Lambert P van den Heuvel, Jan A M Smeitink

  • 1University Medical Center Nijmegen, NCMD, Department of Pediatrics, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

Expert Review of Molecular Diagnostics
|March 6, 2004
PubMed
Summary

Oxidative phosphorylation (OXPHOS) defects stem from dual genetic control, leading to maternal or nuclear inheritance. This review summarizes genetic understanding and future research for unresolved OXPHOS enzyme deficiencies, focusing on complex I.

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

Complement factor I deficiency-associated neuroinflammatory disease among Old Order Amish.

The Journal of allergy and clinical immunology·2025
Same author

Pyruvate dehydrogenase is a potential mitochondrial off-target for gentamicin based on in silico predictions and in vitro inhibition studies.

Toxicology in vitro : an international journal published in association with BIBRA·2023
Same author

Impact of infection on proteome-wide glycosylation revealed by distinct signatures for bacterial and viral pathogens.

iScience·2023
Same author

Metabolic impact of genetic and chemical ADP/ATP carrier inhibition in renal proximal tubule epithelial cells.

Archives of toxicology·2023
Same author

Time to Change: A Systems Pharmacology Approach to Disentangle Mechanisms of Drug-Induced Mitochondrial Toxicity.

Pharmacological reviews·2023
Same author

Identifying trajectories of fatigue in patients with primary mitochondrial disease due to the m.3243A > G variant.

Journal of inherited metabolic disease·2022

Area of Science:

  • Biochemistry
  • Genetics
  • Mitochondrial Biology

Background:

  • The oxidative phosphorylation (OXPHOS) system is crucial for cellular energy production.
  • OXPHOS involves five multiprotein complexes and mobile carriers in the mitochondrial inner membrane.
  • Most OXPHOS components are under dual genetic control (nuclear and mitochondrial DNA).

Purpose of the Study:

  • To review the current genetic understanding of OXPHOS system enzyme deficiencies.
  • To outline future research directions for genetically unresolved OXPHOS defects.
  • To emphasize the genetic aspects of complex I biogenesis.

Main Methods:

  • Literature review of genetic studies on OXPHOS deficiencies.
  • Analysis of inheritance patterns (maternal, autosomal, X-linked).

Related Experiment Videos

  • Discussion of genetic control mechanisms for OXPHOS complexes.

    • Main Results:

    • OXPHOS defects exhibit varied inheritance patterns due to bigenomic control.
    • Mitochondrial DNA mutations cause maternal inheritance; nuclear gene defects lead to autosomal or X-linked inheritance.
    • Many OXPHOS enzyme deficiencies remain genetically unresolved.

    Conclusions:

    • Understanding the genetic basis of OXPHOS is critical for diagnosing and treating related disorders.
    • Further research is needed to elucidate the genetic underpinnings of unresolved OXPHOS deficiencies.
    • Complex I biogenesis presents a key area for future genetic investigation in OXPHOS research.