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Stimulation of Stem Cell Niches and Tissue Regeneration in Mouse Skin by Switchable Protoporphyrin IX-Dependent Photogeneration of Reactive Oxygen Species In Situ
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Genetic disorders coupled to ROS deficiency.

Sharon O'Neill1, Julie Brault2, Marie-Jose Stasia2

  • 1Conway Institute, University College Dublin, Dublin, Ireland.

Redox Biology
|July 27, 2015
PubMed
Summary

Maintaining the balance of reactive oxygen species (ROS) is vital for health. Genetic variants in NADPH oxidase genes can cause diseases like chronic granulomatous disease (CGD) by altering ROS production.

Keywords:
Chronic granulomatous diseaseDUOXGenetic diseaseHypothyroidismInflammatory bowel diseaseNADPH oxidaseNOXReactive oxygen species (ROS)

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Area of Science:

  • Biochemistry
  • Genetics
  • Immunology

Background:

  • Reactive oxygen species (ROS) are crucial for cellular functions, and their redox balance is essential for health.
  • Imbalances in ROS generation, either excess or deficiency, lead to oxidative stress and disease.
  • Inactivating genetic variants in NADPH oxidase complexes are primary causes of reduced ROS production.

Purpose of the Study:

  • To provide a comprehensive overview of recent advancements in Nox/Duox-deficiency disorders.
  • To correlate structure-function studies with clinical variants for predicting functional defects.
  • To highlight the link between NADPH oxidase gene variants and various human diseases.

Main Methods:

  • Review of current literature on Nox/Duox-deficiency disorders.
  • Analysis of structure-function relationships in NADPH oxidase complexes.
  • Correlation of genetic variants with clinical phenotypes and disease outcomes.

Main Results:

  • Genetic variants in CYBB, CYBA, NCF1, NCF2, and NCF4 genes cause chronic granulomatous disease (CGD) due to impaired phagocyte Nox2 oxidase function.
  • Altered variants in DUOX2/DUOXA2 are linked to congenital hypothyroidism.
  • NOX1 and DUOX2 variants are identified as risk factors for inflammatory bowel disease.

Conclusions:

  • Nox/Duox enzymes play critical roles in various physiological processes and their deficiencies lead to distinct diseases.
  • Structure-function insights are valuable for predicting the pathogenicity of novel clinical variants.
  • Further research into NADPH oxidase-related disorders can lead to improved diagnostics and therapeutics.