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 diseases.

Caroline Graff1, The-Hung Bui, Nils-Göran Larsson

  • 1Karolinska Institute, Department of Medical Nutrition and Biosciences, Novum, Huddinge University Hospital, Stockholm, Sweden.

Best Practice & Research. Clinical Obstetrics & Gynaecology
|December 12, 2002
PubMed
Summary

Mitochondrial disorders stem from impaired respiratory chain function. Genetic counseling is complex due to dual DNA origins and mitochondrial DNA (mtDNA) heteroplasmy, complicating disease prediction.

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

Survival estimates and their predictors in genetic frontotemporal dementia: an international, retrospective, cohort study.

The Lancet. Neurology·2026
Same author

Investigating the relationship between ATP synthase and the TCA cycle by crosslinking mass spectrometry.

Nature communications·2026
Same author

Trajectories of brain structure and function in young adult carriers of genetic frontotemporal dementia variants.

medRxiv : the preprint server for health sciences·2026
Same author

Mammalian mtDNA gene expression: Concepts learned from in vivo models.

Biochimica et biophysica acta. Molecular cell research·2026
Same author

GWAS meta-analysis of cerebrospinal fluid Alzheimer's biomarkers reveals loci regulating lipids, brain volume and autophagy.

Nature communications·2026
Same author

Peripheral microRNA signature in genetic frontotemporal dementia-findings from the GENFI initiative.

GeroScience·2026

Area of Science:

  • Biochemistry
  • Genetics
  • Cell Biology

Background:

  • Mitochondrial disorders arise from respiratory chain dysfunction.
  • Genetic basis involves both nuclear and mitochondrial DNA (mtDNA).
  • Limited understanding of nuclear genes impacting mitochondrial function and disease.

Purpose of the Study:

  • To explore the complexities of mitochondrial genetics in disease.
  • To highlight challenges in genetic counseling for mitochondrial disorders.

Main Methods:

  • Review of current literature on mitochondrial genetics.
  • Analysis of factors influencing mtDNA mutation load and phenotype.

Main Results:

  • mtDNA genetics present unique challenges: maternal inheritance, high copy number, and heteroplasmy.
  • Significant variability in mutant load exists between individuals, tissues, and over time.
  • A threshold of mtDNA mutation load is necessary to impair respiratory chain function.
  • Correlation between mutant load and clinical phenotype is often poor.

Conclusions:

  • The intricate genetics of mtDNA, including heteroplasmy and variable penetrance, complicate accurate genetic counseling.
  • Further research is needed to fully elucidate nuclear gene roles and improve predictive models for mitochondrial diseases.

Related Experiment Videos