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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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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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ROS generation is regulated and maintained at moderate levels necessary...

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Related Experiment Video

Updated: May 27, 2026

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle
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Hepatic mitochondrial dysfunction in Friedreich ataxia.

Sven H Stüwe1, Oliver Goetze, Larissa Arning

  • 1Department of Neurology, Ruhr-University, St. Josef-Hospital, Bochum, Germany.

BMC Neurology
|November 17, 2011
PubMed
Summary

The (13)C-methionine-breath test revealed subclinical hepatic mitochondrial dysfunction in Friedreich ataxia patients. This dysfunction did not correlate with disease severity or genetic factors.

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Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Friedreich ataxia is characterized by mitochondrial dysfunction impacting the nervous system, heart, and pancreas.
  • Respiratory chain impairment is a central mechanism in Friedreich ataxia pathogenesis.

Purpose of the Study:

  • To evaluate hepatic mitochondrial function in Friedreich ataxia patients using a non-invasive breath test.
  • To determine if mitochondrial dysfunction correlates with disease characteristics.

Main Methods:

  • The (13)C-methionine-breath test was employed to assess liver mitochondrial function.
  • Sixteen Friedreich ataxia patients were compared with matched healthy controls.

Main Results:

  • Friedreich ataxia patients exhaled significantly lower amounts of (13)CO(2) over 90 minutes compared to controls.
  • Maximal recovery of the exhaled percentage dose of (13)CO(2) was reduced in patients, indicating impaired mitochondrial metabolism.

Conclusions:

  • The (13)C-methionine-breath test is a sensitive indicator of subclinical hepatic mitochondrial dysfunction in Friedreich ataxia.
  • No correlation was found between hepatic mitochondrial dysfunction and GAA repeat lengths, disease duration, or disease severity in the studied cohort.