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

Organismal effects of mitochondrial dysfunction.

R K Naviaux1, K A McGowan

  • 1Mitochondrial and Metabolic Disease Center, University of California, San Diego, School of Medicine, 92103-8467, USA. naviaux@ucsd.edu

Human Reproduction (Oxford, England)
|October 21, 2000
PubMed
Summary

Mitochondrial diseases, caused by inherited or spontaneous mutations, affect various organs, particularly post-mitotic cells. Understanding cellular cooperation and mitochondrial diversity aids in diagnosing these complex genetic disorders.

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

Nicotine withdrawal-induced inattention is absent in alpha7 nAChR knockout mice.

Psychopharmacology·2017
Same author

Reversal of autism-like behaviors and metabolism in adult mice with single-dose antipurinergic therapy.

Translational psychiatry·2014
Same author

Ultrafast nanolaser flow device for detecting cancer in single cells.

Biomedical microdevices·2006
Same author

POLG mutations in Alpers syndrome.

Neurology·2005
Same author

Statin myotoxicity is associated with changes in the cardiopulmonary function.

Atherosclerosis·2004
Same author

Need for public debate about fertility treatments.

Nature·2001

Area of Science:

  • Biochemistry
  • Genetics
  • Cell Biology

Background:

  • Mitochondrial diseases manifest with diverse clinical abnormalities across organ systems.
  • Disorders arise from inherited mutations in mitochondrial DNA (mtDNA) or nuclear genes, or spontaneous mutations during development or aging.
  • Post-mitotic, terminally differentiated cells are preferentially impacted due to cellular metabolic cooperation.

Purpose of the Study:

  • To review the clinical spectrum of mitochondrial disease.
  • To emphasize the roles of cellular metabolic cooperation and mitochondrial diversity in disease pathogenesis.
  • To introduce the Mitochondrial Clinical Assessment Scale I (MCAS-I) for diagnostic development.

Main Methods:

  • Literature review focusing on cellular mechanisms and genetic causes of mitochondrial disease.

Related Experiment Videos

  • Analysis of the structural and biochemical diversity of mitochondria.
  • Presentation of the principles of the MCAS-I.

    • Main Results:

    • Mitochondrial diseases exhibit broad clinical phenotypes affecting any organ system.
    • Both inherited (>100 mtDNA mutations, >200 nuclear gene defects) and spontaneous mutations contribute to disease.
    • Cellular metabolic cooperation and mitochondrial structural/biochemical diversity are key to understanding disease presentation.

    Conclusions:

    • Mitochondrial disease pathogenesis is intricately linked to cellular metabolic cooperation and mitochondrial heterogeneity.
    • The MCAS-I provides a framework for developing diagnostic spectra for mitochondrial disorders.
    • A comprehensive understanding of these factors is crucial for accurate diagnosis and management.