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

Mitochondrial Membranes01:45

Mitochondrial Membranes

A single mitochondrion is a bean-shaped organelle enclosed by a double-membrane system. The outer membrane of mitochondria is smooth and contains many porins - the integral membrane transporters. Porins enable free diffusion of ions and small uncharged molecules through the outer mitochondrial membrane but limit the transport of molecules larger than 5000 Daltons. Further, the outer mitochondrial membrane forms a unique structure called membrane contact sites with other subcellular organelles,...
Mitochondrial Membranes01:45

Mitochondrial Membranes

A single mitochondrion is a bean-shaped organelle enclosed by a double-membrane system. The outer membrane of mitochondria is smooth and contains many porins - the integral membrane transporters. Porins enable free diffusion of ions and small uncharged molecules through the outer mitochondrial membrane but limit the transport of molecules larger than 5000 Daltons. Further, the outer mitochondrial membrane forms a unique structure called membrane contact sites with other subcellular organelles,...
Mitochondria01:37

Mitochondria

Mitochondria are eukaryotic cellular organelles that are known to produce energy through a process called oxidative phosphorylation. Besides their primary function, mitochondria are involved in various cellular processes, including cell growth, differentiation, signaling, metabolism, and senescence. Age-related changes cause a decline in mitochondrial quality and integrity due to increased mitochondrial mutations and oxidative damage. Thus, aging can severely impact mitochondrial functions,...
Electron Transport Chain: Complex I and II01:46

Electron Transport Chain: Complex I and II

The mitochondrial electron transport chain (ETC) is the main energy generation system in the eukaryotic cells. However, mitochondria also produce cytotoxic reactive oxygen species (ROS) due to the large electron flow during oxidative phosphorylation. While Complex I is one of the primary sources of superoxide radicals, ROS production by Complex II is uncommon and may only be observed in cancer cells with mutated complexes.
ROS generation is regulated and maintained at moderate levels necessary...
Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
ATP Synthase: Mechanism01:48

ATP Synthase: Mechanism

In animals, the mitochondrial F1F0 ATP synthase is the key protein that synthesizes ATP molecules through a complex catalytic mechanism. While the nuclear genome encodes the majority of ATP synthase subunits, the mitochondrial genome encodes some of the enzyme's most critical components. The formation of this multi-subunit enzyme is a complex multi-step process regulated at the level of transcription, translation, and assembly. Defects in one or more of these steps can result in decreased ATP...

You might also read

Related Articles

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

Sort by
Same author

Evaluating Co-Ensiling Strategies to Valorise Duckweed as a Sustainable Feed Ingredient.

Plants (Basel, Switzerland)·2026
Same author

Cervical cancer screening practices among patients with autoimmune and inflammatory rheumatic diseases: a descriptive cross-sectional observational study.

BMC women's health·2026
Same author

Diagnostic delay in inherited metabolic diseases: Insights from the U-IMD registry.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

[Real-world diagnostic performance of the «Allogenomics» predictive score in a cohort of 185 patients with suspected inherited kidney disease].

Revue medicale de Liege·2026
Same author

A Pilot-Scale Evaluation of Duckweed Cultivation for Pig Manure Treatment and Feed Production.

Plants (Basel, Switzerland)·2025
Same author

Women's experience of premature ovarian insufficiency (POI) diagnosis: update on actual practices and women's follow-up (EMPOIHER Study).

Menopause (New York, N.Y.)·2025

Related Experiment Video

Updated: Jul 3, 2026

Analysis of Brain Mitochondria Using Serial Block-Face Scanning Electron Microscopy
07:47

Analysis of Brain Mitochondria Using Serial Block-Face Scanning Electron Microscopy

Published on: July 9, 2016

Disorders of mitochondrial function.

François-Guillaume Debray1, Marie Lambert, Grant A Mitchell

  • 1Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, University of Montreal, Sainte-Catherine, Montreal, Quebec, Canada.

Current Opinion in Pediatrics
|July 16, 2008
PubMed
Summary
This summary is machine-generated.

Mitochondrial diseases in children present diverse symptoms. Advances in genetic understanding aid diagnosis, but treatment remains challenging, with supportive care being crucial.

More Related Videos

Assessing Mitochondrial Function in Sciatic Nerve by High-Resolution Respirometry
08:19

Assessing Mitochondrial Function in Sciatic Nerve by High-Resolution Respirometry

Published on: May 5, 2022

Using Live Cell STED Imaging to Visualize Mitochondrial Inner Membrane Ultrastructure in Neuronal Cell Models
08:48

Using Live Cell STED Imaging to Visualize Mitochondrial Inner Membrane Ultrastructure in Neuronal Cell Models

Published on: June 30, 2023

Related Experiment Videos

Last Updated: Jul 3, 2026

Analysis of Brain Mitochondria Using Serial Block-Face Scanning Electron Microscopy
07:47

Analysis of Brain Mitochondria Using Serial Block-Face Scanning Electron Microscopy

Published on: July 9, 2016

Assessing Mitochondrial Function in Sciatic Nerve by High-Resolution Respirometry
08:19

Assessing Mitochondrial Function in Sciatic Nerve by High-Resolution Respirometry

Published on: May 5, 2022

Using Live Cell STED Imaging to Visualize Mitochondrial Inner Membrane Ultrastructure in Neuronal Cell Models
08:48

Using Live Cell STED Imaging to Visualize Mitochondrial Inner Membrane Ultrastructure in Neuronal Cell Models

Published on: June 30, 2023

Area of Science:

  • Pediatric Medicine
  • Genetics
  • Molecular Biology

Background:

  • Mitochondrial diseases are a significant cause of childhood illness, characterized by multisystemic disorders.
  • Recent research has illuminated the complex genetic underpinnings of these conditions.

Purpose of the Study:

  • To review recent advancements in the diagnosis and treatment of pediatric mitochondrial diseases.
  • To highlight the evolving diagnostic approaches and emerging therapeutic strategies.

Main Methods:

  • Literature review of recent clinical developments.
  • Analysis of genetic discoveries and their diagnostic implications.
  • Evaluation of treatment outcomes and patient care strategies.

Main Results:

  • Significant progress in understanding genetic defects in mitochondrial DNA and nuclear genes.
  • Diagnostic methods are advancing but lag behind fundamental discoveries; molecular diagnoses remain limited.
  • Emerging data on prognosis and some therapeutic successes, particularly in coenzyme Q deficiency.

Conclusions:

  • Clinical evaluation is paramount for diagnosing mitochondrial diseases, which can affect any organ system.
  • Genetic counseling and prenatal diagnosis present challenges, especially for mitochondrial DNA mutations.
  • While supportive care is vital, specific treatments for mitochondrial diseases are still in early development, posing a major challenge for pediatric medicine.