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Related Concept Videos

ATP Synthase: Structure01:18

ATP Synthase: Structure

ATP synthase or ATPase is among the most conserved proteins found in bacteria, mammals, and plants. This enzyme can catalyze a forward reaction in response to the electrochemical gradient, producing ATP from ADP and inorganic phosphate. ATP synthase can also work in a reverse direction by hydrolyzing ATP and generating an electrochemical gradient. Different forms of ATP synthases have evolved special features to meet the specific demands of the cell. Based on their specific feature, ATP...
Electron Transport Chain: Complex I and II01:46

Electron Transport Chain: Complex I and II

The mitochondrial electron transport chain (ETC) is the main energy generation system in the eukaryotic cells. However, mitochondria also produce cytotoxic reactive oxygen species (ROS) due to the large electron flow during oxidative phosphorylation. While Complex I is one of the primary sources of superoxide radicals, ROS production by Complex II is uncommon and may only be observed in cancer cells with mutated complexes.
ROS generation is regulated and maintained at moderate levels necessary...
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...
Translation01:31

Translation

Lesson: Translation
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
Translation01:31

Translation

Lesson: Translation
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
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
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Related Experiment Video

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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NDUFA2 complex I mutation leads to Leigh disease.

Saskia J G Hoefs1, Cindy E J Dieteren, Felix Distelmaier

  • 1Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Radboud University Nijmegen Medical Center, Nijmegen 6500 HB, The Netherlands.

American Journal of Human Genetics
|June 3, 2008
PubMed
Summary

Mitochondrial complex I deficiency, a common OXPHOS defect, was identified in a patient due to a novel NDUFA2 gene mutation. This mutation disrupts complex I assembly and function, leading to mitochondrial depolarization.

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Area of Science:

  • Biochemistry
  • Genetics
  • Cell Biology

Background:

  • Mitochondrial complex I deficiency is the most prevalent oxidative phosphorylation (OXPHOS) defect.
  • Investigating the genetic basis of OXPHOS disorders is crucial for understanding cellular energy production.

Observation:

  • A patient presented with isolated complex I deficiency affecting both skin fibroblasts and muscle tissue.
  • Consanguinity in parents prompted homozygosity mapping to identify the genetic cause.

Findings:

  • A novel mutation in the NDUFA2 gene was identified, leading to exon 2 skipping and impaired complex I assembly and activity.
  • This mutation resulted in mitochondrial depolarization, confirmed at the cellular level.
  • Functional rescue of complex I activity and mitochondrial membrane potential was achieved using a baculovirus expression system for NDUFA2.

Implications:

  • This study elucidates the pathogenic mechanism of a specific NDUFA2 mutation in mitochondrial complex I deficiency.
  • Understanding the role of accessory subunits like NDUFA2 is vital for diagnosing and potentially treating OXPHOS disorders.
  • The findings highlight the potential of gene therapy approaches for mitochondrial diseases.