Fanconi Anaemia and Oxidative Stress

Cellular and Clinical Phenotypes
  • Giovanni Pagano
  • Shamim I. Ahmad
Part of the Medical Intelligence Unit book series


The cellular and clinical phenotypes of Fanconi Anaemia (FA) have been associated with a set of redox abnormalities using evidence arising from in vitro, in vivo and molecular studies. The available information points to: (i) the influence of oxygen and antioxidants in chromosomal instability and in apoptosis; (ii) the redox-related toxicity mechanisms of agents (commonly termed “crosslinkers”) triggering excess sensitivity of FA cells; (iii) a set of abnormalities in redox biomarkers detected in body fluids and blood cells from FA patients; (iv) a number of clinical features related to a chronic pro-oxidant state, and (v) the involvement of redox pathways in the functions and structures of at least three proteins encoded by FA genes (FANCA, FANCC and FANCG). Oxidative stress may thus be envisaged as an important phenomenon in FA accounting for most of the findings observed in FA’s clinical phenotype. This information ought to prompt clinical studies that might unveil new avenues in FA research, such as the prospect of controlled chemoprevention trials aimed at counteracting the FA-associated pro-oxidant state and ameliorating FA’s clinical course.


Fanconi Anaemia Chromosomal Instability Bone Marrow Failure Common Variable Immune Deficiency NADPH Cytochrome P450 Reductase 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© and Springer Science+Business Media 2006

Authors and Affiliations

  • Giovanni Pagano
    • 1
  • Shamim I. Ahmad
    • 2
  1. 1.Innovation and Technology Transfer in Oncology and Life SciencesCentre for ResearchMercogliano (AV)Italy
  2. 2.School of Biomedical and Natural SciencesNottingham Trent UniversityNottinghamEngland, UK

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