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Related Concept Videos

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...
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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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Translocation of Proteins into the Mitochondria

Mitochondrial precursors are translocated to the internal subcompartments via independent mechanisms involving distinct protein machineries called translocases.
Sorting of outer membrane proteins:
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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,...
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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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Related Experiment Video

Updated: May 30, 2026

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle
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Ataxia in mitochondrial disorders.

Massimo Zeviani1, Alessandro Simonati, Laurence A Bindoff

  • 1Istituto Nazionale Neurologico "C. Besta" - IRCCS, Milano, Italy. zeviani@fastwebnet.it

Handbook of Clinical Neurology
|August 11, 2011
PubMed
Summary
This summary is machine-generated.

Mitochondrial dysfunction, caused by defects in mitochondrial DNA (mtDNA) or nuclear genes, can lead to ataxia. This chapter explores common mitochondrial ataxias, categorizing them by genetic origin.

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Area of Science:

  • Biochemistry
  • Genetics
  • Neuroscience

Background:

  • Mitochondria generate cellular energy via oxidative phosphorylation using the mitochondrial respiratory chain.
  • This process involves proteins encoded by both nuclear DNA and mitochondrial DNA (mtDNA).
  • Defects in either genetic source can cause mitochondrial dysfunction and neurological diseases, particularly affecting the cerebellum.

Purpose of the Study:

  • To categorize and explain mitochondrial disorders causing ataxia.
  • To differentiate diseases based on their genetic origin: mitochondrial DNA (mtDNA) defects versus nuclear gene mutations.
  • To provide examples of common mitochondrial ataxias.

Main Methods:

  • Review and categorization of mitochondrial disorders.
  • Focus on diseases arising from mtDNA defects.
  • Focus on diseases arising from nuclear gene mutations.

Main Results:

  • Mitochondrial disorders can manifest as cerebellar, spinocerebellar, or sensory ataxia.
  • Over 100 mtDNA mutations are known to cause disease.
  • Numerous nuclear genes are implicated in mitochondrial ataxias.

Conclusions:

  • Mitochondrial ataxias are a diverse group of neurological disorders with genetic origins in either mtDNA or nuclear DNA.
  • Understanding the genetic basis is crucial for diagnosis and potential therapeutic strategies.
  • This chapter provides a framework for understanding common mitochondrial ataxias based on their genetic etiology.