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

Oxidative phosphorylation disease diagnosis.

J M Shoffner1

  • 1Molecular Medicine Laboratory, Children's Healthcare of Atlanta, Georgia 30342, USA.

Seminars in Neurology
|March 15, 2000
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

Molecular analysis of oxidative phosphorylation diseases for detection of mitochondrial DNA mutations.

Current protocols in human genetics·2008
Same author

An introduction: oxidative phosphorylation diseases.

Seminars in neurology·2001
Same author

Oxidative phosphorylation disease diagnosis.

Annals of the New York Academy of Sciences·2000
Same author

Mitochondrial myopathy diagnosis.

Neurologic clinics·2000
Same author

Tau pathology in a family with dementia and a P301L mutation in tau.

Journal of neuropathology and experimental neurology·1999
Same author

Oxidative phosphorylation defects and Alzheimer's disease.

Neurogenetics·1997

Diagnosing oxidative phosphorylation (OXPHOS) diseases, caused by mitochondrial and nuclear DNA mutations, is complex. Advances in understanding OXPHOS genes offer hope for improved diagnosis and treatment strategies.

Area of Science:

  • Biochemistry
  • Genetics
  • Molecular Biology

Background:

  • Oxidative phosphorylation (OXPHOS) requires approximately 1,000 proteins, with only 13 encoded by mitochondrial DNA (mtDNA).
  • OXPHOS diseases, affecting both adults and pediatrics, are increasingly linked to mutations in both mtDNA and nuclear DNA.
  • Current diagnostic approaches for OXPHOS disorders are challenging, integrating diverse clinical, imaging, metabolic, and pathological data.

Purpose of the Study:

  • To review the major classes of OXPHOS diseases.
  • To present a diagnostic algorithm for OXPHOS disorders.
  • To highlight recent advancements in the understanding and management of OXPHOS diseases.

Main Methods:

  • Review of current literature on OXPHOS diseases.

Related Experiment Videos

  • Analysis of diagnostic criteria and algorithms.
  • Synthesis of recent research findings in mtDNA and nuclear DNA mutations affecting OXPHOS.

    • Main Results:

    • Identification of diverse OXPHOS disease categories.
    • Development of a structured diagnostic pathway for complex cases.
    • Documentation of progress in genetic diagnosis, management, and counseling.

    Conclusions:

    • Growing knowledge of nuclear OXPHOS genes is crucial for a unified diagnostic and therapeutic approach.
    • Improved diagnostic capabilities enhance patient management and genetic counseling.
    • Further research into OXPHOS gene function and dysfunction is essential for therapeutic development.