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

Mitochondrial DNA and disease.

Salvatore Dimauro1, Guido Davidzon

  • 1Department of Neurology, Columbia University Medical Center, New York, NY, USA. sd12@columbia.edu

Annals of Medicine
|July 16, 2005
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

[<sup>18</sup>F]DASA-23 PET/MRI evaluation in newly-diagnosed and recurrent high-grade glioma.

Neuroradiology·2026
Same author

Enhancing the Diagnostic Accuracy of Amyloid PET: The Impact of MR-Guided PET Reconstruction.

IEEE transactions on radiation and plasma medical sciences·2026
Same author

Identification of peripheral pain generators with sigma-1 receptor Positron Emission Tomography/Magnetic Resonance Imaging in complex regional pain syndrome: initial study in a prospective trial.

Pain·2026
Same author

Nuclear Medicine AI in Action: The Bethesda Report (AI Summit 2024).

Journal of nuclear medicine : official publication, Society of Nuclear Medicine·2025
Same author

Enhancing the Diagnostic Accuracy of Amyloid PET: The Impact of MR-Guided PET Reconstruction.

medRxiv : the preprint server for health sciences·2025
Same author

Same-day post-therapy imaging with a new generation whole-body digital SPECT/CT in assessing treatment response to [<sup>177</sup>Lu]Lu-PSMA-617 in metastatic castration-resistant prostate cancer.

European journal of nuclear medicine and molecular imaging·2024
Same journal

Early detection of severe fetal growth restriction using multimodal deep learning based on ultrasound and prenatal biomarkers.

Annals of medicine·2026
Same journal

Tinnitus, hyperacusis and somatic complaints in a diverse Norwegian clinical population: implications for assessment and rehabilitation.

Annals of medicine·2026
Same journal

Epidemiological analysis of acute poisoning cases based on Poison control center data from 2021 to 2024.

Annals of medicine·2026
Same journal

Pediatric nurses' stress and their knowledge, attitudes, and practices towards first-aid for pediatric trauma: a latent profile analysis.

Annals of medicine·2026
Same journal

Effects of sub-anesthetic doses of esketamine on immune function and postoperative negative emotions in acoustic neuroma patients: a randomized clinical trial.

Annals of medicine·2026
Same journal

Postoperative outcomes of on- vs off-pump CABG in patients with HFrEF: a nationwide cohort study in Taiwan.

Annals of medicine·2026
See all related articles

Mitochondrial DNA (mtDNA) mutations cause numerous diseases. This review covers mtDNA genetics, prevalent diseases, and ongoing research into mutation roles and pathophysiology.

Area of Science:

  • Genetics
  • Cell Biology
  • Molecular Biology

Background:

  • Mitochondrial DNA (mtDNA) harbors pathogenic mutations and rearrangements.
  • mtDNA-related diseases are relatively common.
  • Understanding mtDNA genetics is crucial for disease research.

Purpose of the Study:

  • To review the principles of mitochondrial genetics.
  • To highlight the prevalence and impact of mtDNA mutations.
  • To discuss controversial aspects of mtDNA pathogenicity.

Main Methods:

  • Literature review of mitochondrial genetics.
  • Analysis of pathogenic mtDNA mutations.
  • Discussion of controversial topics in mtDNA research.

Main Results:

Related Experiment Videos

  • Mitochondrial genetics follows unique rules: maternal inheritance, mitotic segregation, heteroplasmy, and threshold effect.
  • Numerous pathogenic mutations, especially in protein-coding genes, are identified.
  • Controversial issues include the role of mtDNA haplotypes and homoplasmic mutations.

Conclusions:

  • Mitochondrial DNA mutations are a significant cause of human disease.
  • Further research is needed to clarify the pathophysiology of mtDNA mutations.
  • Understanding mtDNA genetics is key to diagnosing and treating mitochondrial disorders.