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 Concept Videos

Mutations01:39

Mutations

Overview
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Mutations01:39

Mutations

Overview
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
Mutations in Microorganisms01:18

Mutations in Microorganisms

Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

4,5-dihydroxyhexanoic acid is a robust circulating and urine marker of mitochondrial disease and its severity.

bioRxiv : the preprint server for biology·2026
Same author

Chronic ER Stress Disrupts Mitochondrial-Associated ER Membrane Integrity in Corneal Endothelial Cells.

bioRxiv : the preprint server for biology·2026
Same author

Aberrant ER-mitochondria communication is a common pathomechanism in mitochondrial disease.

Cell death & disease·2024
Same author

Towards a Unitary Hypothesis of Alzheimer's Disease Pathogenesis.

Journal of Alzheimer's disease : JAD·2024
Same author

A United States-based patient-reported adult polyglucosan body disease registry: initial results.

Therapeutic advances in rare disease·2024
Same author

Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC).

Molecular genetics and metabolism·2022

Related Experiment Video

Updated: Jul 9, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
07:24

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

Mitochondrial mutations: genotype to phenotype.

Eric A Schon1, Salvatore DiMauro

  • 1Department of Neurology, Columbia University Medical School, 630 West 168th Street, New York, NY 10032, USA.

Novartis Foundation Symposium
|December 14, 2007
PubMed
Summary
This summary is machine-generated.

Mitochondrial respiratory chain diseases stem from genetic defects. These conditions are categorized into four main groups based on the underlying cause, impacting function, assembly, or cellular integrity.

More Related Videos

Transmitochondrial Cybrid Generation Using Cancer Cell Lines
07:49

Transmitochondrial Cybrid Generation Using Cancer Cell Lines

Published on: March 17, 2023

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry
06:53

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry

Published on: November 23, 2011

Related Experiment Videos

Last Updated: Jul 9, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
07:24

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

Transmitochondrial Cybrid Generation Using Cancer Cell Lines
07:49

Transmitochondrial Cybrid Generation Using Cancer Cell Lines

Published on: March 17, 2023

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry
06:53

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry

Published on: November 23, 2011

Area of Science:

  • Biochemistry
  • Genetics
  • Cell Biology

Background:

  • Mitochondrial respiratory chain (MRC) dysfunction underlies numerous human diseases.
  • Genetic defects are the primary cause of MRC disorders.
  • Understanding the classification of these defects is crucial for diagnosis and treatment.

Purpose of the Study:

  • To categorize diseases associated with mitochondrial respiratory chain defects.
  • To provide a framework for understanding the diverse etiologies of MRC disorders.
  • To discuss the four major categories of MRC-related diseases.

Main Methods:

  • Review and categorization of known genetic defects affecting the mitochondrial respiratory chain.
  • Classification based on the direct or indirect impact on MRC subunits, assembly, or function.
  • Inclusion of nuclear DNA (nDNA) defects impacting mitochondrial morphology and mobility.

Main Results:

  • Diseases are grouped into four categories: mutations in MRC subunits, mutations affecting MRC assembly, mutations indirectly impacting MRC function (mtDNA translation/integrity), and nDNA mutations affecting mitochondrial structure/dynamics.
  • Each category represents a distinct mechanism leading to MRC dysfunction.
  • The 'collateral damage' concept highlights how nuclear gene defects can secondarily impair MRC function.

Conclusions:

  • A four-category classification system effectively organizes mitochondrial respiratory chain diseases.
  • This classification aids in understanding the complex genetic basis of these disorders.
  • Further research into these categories can lead to targeted therapeutic strategies.