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 disease.

Anthony H V Schapira1

  • 1University Department of Clinical Neurosciences, Royal Free and University College Medical School, and Institute of Neurology, University College London, London NW3 2PF, UK. a.schapira@medasch.ucl.ac.uk

Lancet (London, England)
|July 4, 2006
PubMed
Summary

Mitochondrial metabolism defects cause numerous human diseases. Recent advances illuminate mitochondrial DNA (mtDNA) inheritance, gene mutations linked to diseases like Parkinson's, and potential therapies.

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

UCL Queen Square Institute of Neurology: 75 years of innovation.

The Lancet. Neurology·2026
Same author

GLP-1 and Parkinson's Disease: A Comprehensive Review of Biology, Mechanisms and Efficacy.

Cells·2026
Same author

New evidence on the clinical, genetic, and biochemical bases of GBA1-Parkinson's disease: prospects for treatment.

The Lancet. Neurology·2026
Same author

Microbiome signature of Parkinson's disease in healthy and genetically at-risk individuals.

Nature medicine·2026
Same author

Protocol of ASPro-PD: a phase 3 trial of ambroxol to slow progression in genetically stratified Parkinson's disease.

Journal of neurology·2026
Same author

Introducing PIGMO, a novel PIGmented MOuse model of Parkinson's disease.

NPJ Parkinson's disease·2026

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Mitochondrial metabolism defects are implicated in a broad spectrum of human diseases across medical specialties.
  • Mitochondrial DNA (mtDNA) plays a crucial role in cellular energy production and its dysfunction leads to various pathologies.

Purpose of the Study:

  • To provide an updated review of recent significant advances in the field of mitochondrial diseases.
  • To explore the genetic and molecular basis of mitochondrial disorders and their clinical manifestations.

Main Methods:

  • Review of current literature on mitochondrial metabolism and genetics.
  • Analysis of recent findings on mtDNA inheritance, maintenance, and replication.
  • Examination of genotype-phenotype correlations in mtDNA disorders.

Main Results:

  • New insights into the epidemiology, pathogenesis, and role of mtDNA disorders in aging.
  • Identification of nuclear gene mutations (e.g., frataxin, PINK1, DJ1, POLG) linked to specific diseases like Friedreich's ataxia and Parkinson's disease.
  • Established links between mitochondrial defects and neurodegenerative diseases such as Alzheimer's and Huntington's disease.

Conclusions:

  • Understanding mtDNA inheritance and mutation patterns is crucial for genetic counseling.
  • Novel techniques for mtDNA modification hold promise for future therapeutic interventions.
  • Continued research into mitochondrial diseases offers potential for improved patient outcomes.

Related Experiment Videos