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 disorders in muscle

E A Schon1

  • 1Department of Neurology, Columbia University, New York, NY 10032.

Current Opinion in Neurology and Neurosurgery
|February 1, 1993
PubMed
Summary
This summary is machine-generated.

Analyzing mitochondrial DNA mutations advances understanding of clinical syndromes. New technologies offer insights into pathogenesis and expand the scope of mitochondrial DNA diseases to more common conditions.

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

Mitochondria.

Journal of neurology, neurosurgery, and psychiatry·2003
Same author

Pathogenesis of primary defects in mitochondrial ATP synthesis.

Seminars in cell & developmental biology·2001
Same author

Mitochondrial DNA mutations in human disease.

American journal of medical genetics·2001
Same author

Both heavy strand replication origins are active in partially duplicated human mitochondrial DNAs.

Biochemical and biophysical research communications·2001
Same journal

Neuropharmacology.

Current opinion in neurology and neurosurgery·1993
Same journal

Disorders of the spinal cord and cauda equina.

Current opinion in neurology and neurosurgery·1993
Same journal

Autonomic disorders.

Current opinion in neurology and neurosurgery·1993
Same journal

Molecular and cell biology of addiction.

Current opinion in neurology and neurosurgery·1993
Same journal

Molecular mechanisms of trauma-induced neuronal degeneration.

Current opinion in neurology and neurosurgery·1993
Same journal

Excitatory amino acid receptors and epilepsy.

Current opinion in neurology and neurosurgery·1993
See all related articles

Area of Science:

  • Genetics and Molecular Biology
  • Clinical Medicine
  • Pathogenesis Research

Background:

  • Mitochondrial DNA (mtDNA) mutations are implicated in various clinical syndromes.
  • Advancements in mtDNA analysis have significantly improved understanding of these diseases.
  • The study of mtDNA disorders is evolving beyond rare conditions.

Purpose of the Study:

  • To highlight the impact of analyzing mitochondrial DNA mutations.
  • To discuss the role of new technologies in studying mtDNA.
  • To explore the expanding range of clinical phenotypes associated with mtDNA diseases.

Main Methods:

  • Analysis of mitochondrial DNA mutations.
  • Application of new technologies for genetic study.
  • Clinical phenotype correlation.

Related Experiment Videos

Main Results:

  • Successful analysis of mtDNA mutations has clarified the understanding of clinical syndromes.
  • New technologies provide novel insights into disease pathogenesis.
  • The field now includes more frequent clinical phenotypes.

Conclusions:

  • Mitochondrial DNA mutation analysis is crucial for understanding complex genetic disorders.
  • Technological advancements are key to unraveling mtDNA disease mechanisms.
  • The scope of mitochondrial DNA diseases is broadening to include prevalent conditions.