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Updated: Jul 2, 2025

Production and Detection of Reactive Oxygen Species ROS in Cancers
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Monogenic Disorders of ROS Production and the Primary Anti-Oxidative Defense

Nana-Maria Grüning1, Markus Ralser1,2,3

  • 1Department of Biochemistry, Charité Universitätsmedizin Berlin, 10117 Berlin, Germany.

Biomolecules
|February 24, 2024
PubMed

Insights

Oxidative stress disrupts cellular balance, impacting numerous diseases. Understanding redox metabolism genes and genetic disorders is key to addressing conditions like cardiovascular disease, neurodegeneration, and cancer.

Area of Science:

  • Biochemistry
  • Genetics
  • Molecular Biology

Background:

  • Oxidative stress, an imbalance in reactive oxygen species (ROS) and antioxidant defenses, is central to human disease pathogenesis.
  • Redox metabolism, involving enzymes and genes, regulates ROS levels and cellular homeostasis.

Purpose of the Study:

  • To review key human genes involved in ROS generation, detoxification, and NADPH production.
  • To examine genetic disorders that disrupt redox metabolism and homeostasis.
  • To connect insights from monogenic metabolic diseases to chronic disorders.

Main Methods:

  • Literature review of human genes and genetic disorders related to redox metabolism.
  • Analysis of the role of specific proteins in ROS management and NADPH production.
  • Synthesis of findings from inherited metabolic diseases.

Main Results:

  • Identified critical human genes regulating ROS production and detoxification.
  • Highlighted genetic disorders causing redox metabolism dysregulation.
  • Established links between redox imbalance and chronic diseases.

Conclusions:

  • Redox metabolism is vital for cellular health and disease prevention.
  • Genetic insights into redox pathways offer therapeutic targets for chronic conditions.
  • Understanding these pathways aids in unraveling complex disease mechanisms.
Keywords:
cellular redox balanceinherited diseasemonogenic disorderoxidative stressreactive oxygen species (ROS)

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