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Related Concept Videos

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...
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...
Mitochondrial Precursor Proteins01:39

Mitochondrial Precursor Proteins

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 precursors...
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,...
Mitochondrial Protein Sorting01:39

Mitochondrial Protein Sorting

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...

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Updated: Jul 5, 2026

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

Hereditary optic neuropathies share a common mitochondrial coupling defect.

Arnaud Chevrollier1, Virginie Guillet, Dominique Loiseau

  • 1Institut National de la Santé et de la Recherche Médicale, U694, Départment de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France. archevrollier@chu-angers.fr

Annals of Neurology
|May 23, 2008
PubMed
Summary
This summary is machine-generated.

Hereditary optic neuropathies share a common defect in cellular energy production. This defect is more severe in patients with complex symptoms, indicating a link between mitochondrial dysfunction and disease severity.

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

Published on: February 9, 2020

Area of Science:

  • Ophthalmology
  • Mitochondrial Medicine
  • Genetics

Background:

  • Hereditary optic neuropathies cause vision loss through retinal ganglion cell degeneration and optic nerve atrophy.
  • These conditions include autosomal dominant optic atrophy (OPA1, OPA3 mutations) and Leber's hereditary optic neuropathy (mtDNA complex I mutations).

Purpose of the Study:

  • To investigate a potential common mechanism underlying different hereditary optic neuropathies.
  • To correlate the severity of cellular energy defects with clinical phenotypes.

Main Methods:

  • Analysis of oxidative phosphorylation coupling in patient-derived fibroblasts.
  • Comparison of bioenergetic defects across different hereditary optic neuropathy subtypes.

Main Results:

  • A common defect in oxidative phosphorylation was identified in patients with OPA1, OPA3, and Leber's hereditary optic neuropathy.
  • The energetic defect was significantly more pronounced in Leber's hereditary optic neuropathy and OPA1 patients presenting with a 'plus' phenotype.

Conclusions:

  • Mitochondrial dysfunction, specifically impaired oxidative phosphorylation, is a shared feature of these hereditary optic neuropathies.
  • The degree of mitochondrial dysfunction correlates with the clinical complexity and severity of the disease.