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

Translation01:31

Translation

16.2K
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
16.2K
Translocation of Proteins into the Mitochondria01:19

Translocation of Proteins into the Mitochondria

7.4K
Mitochondrial precursors are translocated to the internal subcompartments via independent mechanisms involving distinct protein machineries called translocases.
Sorting of outer membrane proteins:
Mitochondrial outer membrane proteins are of two types: the transmembrane, beta-barrel porins, and the membrane-anchored, alpha-helical proteins. Beta-barrel porin precursors are translocated by the TOM complex and inserted into the outer mitochondrial membrane by the SAM complex. In contrast,...
7.4K
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

8.2K
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...
8.2K
Mitochondrial Protein Sorting01:39

Mitochondrial Protein Sorting

4.6K
Mitochondria are double-membrane organelles of the eukaryotes involved in cellular metabolism, signaling, ATP synthesis, and programmed cell death.  Each of these processes requires specific proteins and enzymes that must be correctly sorted to the right mitochondrial subcompartment for the proper functioning of the organelle.
Most of these mitochondrial proteins are encoded by the nucleus and imported to the mitochondria as unfolded or loosely folded precursors. Mitochondrial precursors...
4.6K
Mitochondrial Membranes01:45

Mitochondrial Membranes

12.8K
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,...
12.8K
Mitochondrial Precursor Proteins01:39

Mitochondrial Precursor Proteins

2.7K
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...
2.7K

You might also read

Related Articles

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

Sort by
Same author

Impaired task-dependent cerebral cortex oxygenation in Glut1 deficiency.

Frontiers in neuroscience·2026
Same author

Mechanics of Long-Shank 5 mm Neural Probe Insertion into the Rat Brain: Effects of Geometry and Vibration-Assisted Insertion.

Micromachines·2026
Same author

Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.

American journal of human genetics·2025
Same author

Exploring the Genetic Role of MECP2 Mutations on Phenotypic Presentation in Males: A Case Report.

Journal of developmental and behavioral pediatrics : JDBP·2025
Same author

Amorphous silicon carbide probe mechanics for insertion in the cerebral cortex of rats, pigs, and macaques.

Journal of neural engineering·2025
Same author

Author Correction: Recording of pig neuronal activity in the comparative context of the awake human brain.

Scientific reports·2024

Related Experiment Video

Updated: Oct 8, 2025

Author Spotlight: Decoding Mitochondrial Aging
08:48

Author Spotlight: Decoding Mitochondrial Aging

Published on: June 30, 2023

4.3K

Mitochondrial disease manifestations in relation to transcriptome location and function.

Vikram Jakkamsetti1, Seema Balasubramaniam2, Nidhi Grover2

  • 1Rare Brain Disorders Program, Department of Neurology, The University of Texas Southwestern Medical Center, Dallas, TX, USA.

Molecular Genetics and Metabolism
|January 1, 2022
PubMed
Summary

Neurological disease manifestations correlate with brain region, not just individual gene function. Mitochondrial substrate disorders show stereotypic phenotypes linked to regional gene expression, suggesting broader biological processes drive disease localization.

Keywords:
MetabolismMitochondrialPhenotypeTranscriptome

More Related Videos

Author Spotlight: Transmitochondrial Cybrid Generation Using Cancer Cell Lines
07:49

Author Spotlight: Transmitochondrial Cybrid Generation Using Cancer Cell Lines

Published on: March 17, 2023

2.7K
Author Spotlight: Establishing a New Fluorescence-Based Protocol for In Vivo Mitochondrial Morphology Analysis in Parkinson's Disease
06:07

Author Spotlight: Establishing a New Fluorescence-Based Protocol for In Vivo Mitochondrial Morphology Analysis in Parkinson's Disease

Published on: June 23, 2023

1.8K

Related Experiment Videos

Last Updated: Oct 8, 2025

Author Spotlight: Decoding Mitochondrial Aging
08:48

Author Spotlight: Decoding Mitochondrial Aging

Published on: June 30, 2023

4.3K
Author Spotlight: Transmitochondrial Cybrid Generation Using Cancer Cell Lines
07:49

Author Spotlight: Transmitochondrial Cybrid Generation Using Cancer Cell Lines

Published on: March 17, 2023

2.7K
Author Spotlight: Establishing a New Fluorescence-Based Protocol for In Vivo Mitochondrial Morphology Analysis in Parkinson's Disease
06:07

Author Spotlight: Establishing a New Fluorescence-Based Protocol for In Vivo Mitochondrial Morphology Analysis in Parkinson's Disease

Published on: June 23, 2023

1.8K

Area of Science:

  • Neuroscience
  • Genetics
  • Systems Biology

Background:

  • Neurological disease manifestations are often linked to specific brain regions.
  • Traditionally, gene function is considered broadly expressed, dissociating molecular mechanisms from regional correlations.
  • Mitochondrial substrate disorders present as a model for seemingly heterogeneous genetic diseases.

Purpose of the Study:

  • To investigate if shared biological processes, rather than individual gene functions, explain the localization of neurological disease phenotypes.
  • To test the hypothesis that gene sets sustaining concerted biological processes lead to common or localizable phenotypes.
  • To analyze mitochondrial substrate disorders as a paradigm for disease localization.

Main Methods:

  • Analysis of publicly available transcriptomes and Human Ontology classifications for 27 mitochondrial substrate metabolism diseases.
  • Correlation of disease phenotypes with regional brain gene expression patterns.
  • Comparison with known associations between transcriptome expression and dementia atrophy resistance.

Main Results:

  • Phenotypic manifestations and affected brain structures in mitochondrial substrate disorders were highly consistent across different causal genes.
  • These consistent phenotypes correlated with the regional abundance of transcriptomes involved in mitochondrial substrate metabolism.
  • Dysfunction in inhibitory neurons, linked to mitochondrial diseases, also showed regional transcriptome correlations.

Conclusions:

  • Disease manifestations are strongly influenced by the regional expression of broad biological processes, such as mitochondrial substrate metabolism.
  • Brain region or cell type dysfunction, driven by systemic processes, is more critical for disease localization than individual gene molecular function.
  • This challenges the traditional view of gene function dissociation from regional brain pathology.