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

18.0K
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,...
18.0K
Mitochondrial Membranes01:45

Mitochondrial Membranes

2.4K
2.4K
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

10.2K
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...
10.2K
Electron Transport Chain: Complex I and II01:46

Electron Transport Chain: Complex I and II

19.7K
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...
19.7K
Mitochondrial Precursor Proteins01:39

Mitochondrial Precursor Proteins

3.9K
Mitochondrial precursors are partially unfolded or loosely folded polypeptide chains. Newly synthesized precursors are inhibited from spontaneously folding into their native conformation by the cytosolic chaperones, heat shock proteins 70 (Hsp70), and mitochondrial import stimulation factors (MSFs). Precursors bound to MSFs are guided to the TOM70-TOM37 receptors, while precursors bound to Hsp70  chaperones are targetted to TOM20-TOM22 receptor complexes.
Most of the mitochondrial...
3.9K
Mitochondria01:37

Mitochondria

21.5K
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,...
21.5K

You might also read

Related Articles

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

Sort by
Same author

Inter-centre heterogeneity, temporal evolution, and factors associated with treatment selection and outcomes in chronic inflammatory demyelinating polyradiculoneuropathy: a multicentre, combined prospective and retrospective observational study.

EClinicalMedicine·2026
Same author

Pharmacological Interventions for Hereditary Transthyretin-Related Amyloidosis With Polyneuropathy: Systematic Review and Network Meta-Analysis.

European journal of neurology·2026
Same author

A Quantitative Assessment of Upper Limb Motor Function Across Disease Stages in Hereditary Transthyretin Amyloidosis.

Journal of the peripheral nervous system : JPNS·2026
Same author

ChatGPT in the diagnosis and management of complex polyneuropathies: comparative analysis with neurologists using real-world cases.

NPJ digital medicine·2026
Same author

Deep Phenotyping of F64L Mutation in a Multicentric Cohort of Patisiran-Treated Hereditary Transthyretin Amyloidosis Patients (Patisiranitaly).

European journal of neurology·2026
Same author

Clinical and pathological findings in two Italian siblings of Romani ancestry with charcot-marie-tooth type 4D and review of the current literature.

Journal of neuromuscular diseases·2026

Related Experiment Video

Updated: Apr 15, 2026

Three-dimensional Imaging and Analysis of Mitochondria within Human Intraepidermal Nerve Fibers
10:31

Three-dimensional Imaging and Analysis of Mitochondria within Human Intraepidermal Nerve Fibers

Published on: September 29, 2017

10.8K

Mitochondrial dynamics and inherited peripheral nerve diseases.

Davide Pareyson1, Paola Saveri1, Anna Sagnelli1

  • 1Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences - IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.

Neuroscience Letters
|April 8, 2015
PubMed
Summary

Mitochondrial dynamics, crucial for nerve energy, are disrupted by mutations in proteins like MFN2 and GDAP1, leading to Charcot-Marie-Tooth disease and other neuropathies.

Keywords:
Axonal transportCharcot–Marie–Tooth diseaseGDAP1MFN2Mitochondrial dynamicMitochondrial fusion and fission

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

3.0K
Analyzing Mitochondrial Transport and Morphology in Human Induced Pluripotent Stem Cell-Derived Neurons in Hereditary Spastic Paraplegia
07:32

Analyzing Mitochondrial Transport and Morphology in Human Induced Pluripotent Stem Cell-Derived Neurons in Hereditary Spastic Paraplegia

Published on: February 9, 2020

8.4K

Related Experiment Videos

Last Updated: Apr 15, 2026

Three-dimensional Imaging and Analysis of Mitochondria within Human Intraepidermal Nerve Fibers
10:31

Three-dimensional Imaging and Analysis of Mitochondria within Human Intraepidermal Nerve Fibers

Published on: September 29, 2017

10.8K
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

3.0K
Analyzing Mitochondrial Transport and Morphology in Human Induced Pluripotent Stem Cell-Derived Neurons in Hereditary Spastic Paraplegia
07:32

Analyzing Mitochondrial Transport and Morphology in Human Induced Pluripotent Stem Cell-Derived Neurons in Hereditary Spastic Paraplegia

Published on: February 9, 2020

8.4K

Area of Science:

  • Neuroscience
  • Cell Biology
  • Genetics

Background:

  • Peripheral nerves require significant energy due to long axons, making mitochondrial function critical.
  • Mitochondrial dynamics, involving changes in mitochondrial size, shape, and location, are essential for cellular health.
  • Aberrant mitochondrial dynamics are linked to various neurological disorders.

Purpose of the Study:

  • To review the role of mitochondrial dynamics abnormalities in Charcot-Marie-Tooth disease (CMT) and related peripheral neuropathies.
  • To highlight specific proteins involved in mitochondrial fusion, fission, and axonal transport and their associated genetic mutations.
  • To explore the connection between mutations in mitochondrial dynamics-related genes and different subtypes of CMT and other neuropathies.

Main Methods:

  • Literature review of studies on mitochondrial dynamics, genetics, and peripheral neuropathies.
  • Analysis of mutations in key proteins such as mitofusin-2 (MFN2), ganglioside-induced differentiation-associated protein-1 (GDAP1), and Optic Atrophy-1 (OPA1).
  • Examination of the role of axonal transport machinery, including kinesins and dynein, and cytoskeletal components in mitochondrial transport.

Main Results:

  • Mutations in MFN2 cause CMT type 2A, affecting mitochondrial fusion and axonal transport.
  • GDAP1 mutations are linked to various CMT subtypes (CMT4A, AR-CMT2K, CMT2K), impacting mitochondrial fission, fusion, and transport.
  • Mutations in OPA1 and genes involved in axonal transport (e.g., KIFs, DYNC1H1) and cytoskeleton (e.g., TUBB3, NEFL) also lead to peripheral neuropathies.

Conclusions:

  • Disruptions in mitochondrial dynamics and axonal transport are key mechanisms underlying CMT and related neuropathies.
  • Genetic mutations affecting mitochondrial fusion, fission, and transport proteins are significant contributors to peripheral nerve disorders.
  • Understanding these molecular pathways is crucial for diagnosing and potentially treating these debilitating neurological conditions.