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Related Concept Videos

Diabetic Neuropathy01:22

Diabetic Neuropathy

DefinitionDiabetic neuropathy is nerve damage caused by long-standing diabetes mellitus. It results directly from prolonged high blood sugar levels.PathophysiologyThe pathophysiology of diabetic neuropathy involves both metabolic and vascular disturbances triggered by chronic hyperglycemia.Metabolic injury: Elevated glucose levels activate the polyol pathway within nerve cells, leading to the accumulation of sorbitol and fructose. This increases oxidative stress, disrupts normal nerve...
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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.
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Mitochondrial Membranes01:45

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Mitochondrial Membranes01:45

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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,...
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...
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The Peripheral Nervous System (PNS) is a crucial component of the body's neural network, extending beyond the central nervous system (CNS) to bridge the gap between the CNS and the external environment. It encompasses nerves, ganglia, and sensory receptors.
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Updated: May 16, 2026

Assessing Mitochondrial Function in Sciatic Nerve by High-Resolution Respirometry
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Assessing Mitochondrial Function in Sciatic Nerve by High-Resolution Respirometry

Published on: May 5, 2022

Mitochondria and peripheral neuropathies.

Anne Vital1, Claude Vital

  • 1Institut des Maladies Neurodégénératives, CNRS, Univ. Bordeaux, CHU Bordeaux, Bordeaux, France. anne.vital@chu-bordeaux.fr

Journal of Neuropathology and Experimental Neurology
|November 14, 2012
PubMed
Summary
This summary is machine-generated.

Genetic defects in nuclear DNA, particularly in POLG1, MFN2, and GDAP1 genes, are prominent causes of hereditary neuropathies. These mitochondrial disorders present diverse phenotypes, often mimicking other conditions, highlighting the need for accurate genetic diagnosis.

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

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

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Published on: May 5, 2022

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

Area of Science:

  • Neurogenetics
  • Mitochondrial Biology
  • Molecular Medicine

Background:

  • Over 24 years of progress in understanding mitochondrial and nuclear DNA mutations.
  • Over 100 nerve biopsies analyzed for hereditary neuropathies linked to mitochondrial cytopathies.

Purpose of the Study:

  • To review the molecular genetics of hereditary neuropathies associated with mitochondrial disorders.
  • To highlight the role of nuclear DNA gene defects in these conditions.

Main Methods:

  • Examination of nerve biopsies from patients with hereditary neuropathies.
  • Analysis of genetic mutations in mitochondrial and nuclear DNA.
  • Review of clinical phenotypes and diagnostic clues.

Main Results:

  • Hereditary neuropathies are linked to mitochondrial DNA point mutations and nuclear DNA defects.
  • Key nuclear genes involved include POLG1, MFN2, and GDAP1.
  • Phenotypes are diverse, including sensory-motor neuropathy, ophthalmoplegia, ataxia, and seizures.
  • Nerve biopsy findings like enlarged mitochondria and onion bulb-like formations are suggestive.

Conclusions:

  • Nuclear DNA gene defects are significant contributors to mitochondrial disorder-related neuropathies.
  • Accurate diagnosis requires integrating clinical, genetic, and histopathological findings.
  • Distinctive nerve biopsy features can aid in identifying mitochondriopathies, especially those related to GDAP1 mutations.