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

Mitochondria.

P F Chinnery1, E A Schon

  • 1Department of Neurology, The University of Newcastle upon Tyne, Newcastle upon Tyne, UK. p.f.chinnery@ncl.ac.uk

Journal of Neurology, Neurosurgery, and Psychiatry
|August 23, 2003
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

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

Depression, anxiety and PTSD symptoms before and during the COVID-19 pandemic in the UK.

Psychological medicine·2022
Same author

Neuropathological and biochemical investigation of Hereditary Ferritinopathy cases with ferritin light chain mutation: Prominent protein aggregation in the absence of major mitochondrial or oxidative stress.

Neuropathology and applied neurobiology·2020
Same author

Inheritance of mitochondrial DNA in humans: implications for rare and common diseases.

Journal of internal medicine·2020
Same author

Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.

Genetics in medicine : official journal of the American College of Medical Genetics·2019
Same journal

Global epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis.

Journal of neurology, neurosurgery, and psychiatry·2026
Same journal

Diagnostic accuracy of a two-cut-off approach using the FAQ/MMSE ratio and FAQ for clinical preselection of patients for anti-amyloid therapy.

Journal of neurology, neurosurgery, and psychiatry·2026
Same journal

Cancer risk and mortality in patients with multiple sclerosis in Finland: a retrospective population-based cohort study.

Journal of neurology, neurosurgery, and psychiatry·2026
Same journal

Visuospatial working memory in Huntington's disease: behavioural and structural brain correlates.

Journal of neurology, neurosurgery, and psychiatry·2026
Same journal

Characteristics and outcomes in electric scooter-related traumatic brain injuries in Helsinki.

Journal of neurology, neurosurgery, and psychiatry·2026
Same journal

Chronological ageing and ovarian reserve in MS: insights from anti-Müllerian hormone and disability progression.

Journal of neurology, neurosurgery, and psychiatry·2026
See all related articles

Mitochondrial DNA research has evolved from focusing on the mitochondrial genome to exploring nuclear genes crucial for mitochondrial function. Understanding nuclear-mitochondrial interactions is key for diagnosing and treating genetic disorders.

Area of Science:

  • Genetics
  • Molecular Biology
  • Cell Biology

Background:

  • Mitochondrial DNA (mtDNA) was discovered in the 1960s, with its human sequence published in 1981 and pathogenic mutations identified in 1988.
  • The 1990s focused heavily on the mitochondrial genome, but recent research has shifted emphasis to nuclear genes influencing mitochondrial homeostasis.
  • Mitochondrial dysfunction is implicated in established nuclear genetic disorders like dominant optic atrophy, Friedreich's ataxia, and Wilson's disease.

Purpose of the Study:

  • To review the historical progression of mitochondrial DNA research.
  • To highlight the shift towards understanding the role of nuclear genes in mitochondrial function and disease.
  • To identify future challenges in defining nuclear-mitochondrial gene interactions in health and disease.

Main Methods:

Related Experiment Videos

  • Literature review of key discoveries in mitochondrial genetics.
  • Analysis of the changing focus in research from mtDNA to nuclear genes.
  • Identification of specific nuclear genes and genetic disorders linked to mitochondrial dysfunction.

Main Results:

  • Significant advances in mtDNA sequencing and mutation identification occurred in the 1980s.
  • Numerous nuclear genes essential for mitochondrial homeostasis have been identified.
  • Disruption of these nuclear genes leads to autosomally inherited mitochondrial diseases.
  • Mitochondrial dysfunction is a key factor in the pathophysiology of several well-known nuclear genetic disorders.

Conclusions:

  • Research focus has transitioned from mitochondrial DNA to nuclear genes impacting mitochondrial health.
  • Nuclear gene defects are a significant cause of inherited mitochondrial diseases.
  • Further research is needed to elucidate complex interactions between nuclear and mitochondrial genes in health and disease.