Fanconi Anemia and Oxidative Stress: Mechanistic Background and Clinical Prospects


Series: Cancer Etiology, Diagnosis and Treatments
BISAC: MED062000

Fanconi Anemia (FA), a rare genetic disease featuring excess cancer risk and chromosomal instability, has received growing interest after the discovery that one of the defective genes in FA is associated with high-impact diseases such as familial breast cancer and ovary cancers. A well-documented relationship has accumulated in several decades and up to recently, studies have linked FA with a redox imbalance (oxidative stress, OS) in FA cells. The toxicity mechanisms of crosslinking agents (mitomycin C and diepoxybutane) in FA cells, along with the roles of OS-related aldehydes and glutathione in FA and in other diseases, are critically discussed.

Also discussed is the proinflammatory state in FA phenotype. Additionally, recent studies have discovered an impairment in the structure and function of mitochondria in FA cell lines, while mitochondrial dysfunction in FA patients has so far been an unexplored field warranting ad hoc investigations. This book provides the readers with up-to-date information and perspectives on Fanconi anemia and oxidative stress that may prompt further elucidation of this intriguing disease, along with working hypotheses in clinical research and patients’ management. (Imprint: Nova Biomedical)

Table of Contents

Table of Contents


Fanconi Anemia Clinical and Genetic Heterogeneity
(Adriana Zatterale, Head Emeritus, Genetics Department, ASL Napoli 1, Naples, Italy)

Chromosome Instability in Fanconi Anemia. Can it Be Mitigated by Antioxidant Small Molecules?
(Beatriz Porto, Filipa Ponte, Laboratory of Cytogenetics, ICBAS- Biomedical Institute Abel Salazar, University of Porto, Portugal)

Biochemical Grounds for “Crosslinker Sensitivity”: What Have we Learned from Pharmacology?
(Giovanni Pagano, Marco d’Ischia, Federico V. Pallardó, Italian National Cancer Institute, CROM, Italy, and others)

Involvement of Mitochondria in the Pathology of Fanconi Anemia
(Pavithra Shyamsunder, Rama S. Verma, Sudit S. Mukhopadhyay, Alex Lyakhovich, Stem cell and Molecular biology Laboratory, Department of Biotechnology, Indian Institute of Technology Madras, Chennai, India, and others)

Aldehydes as Markers of Redox Imbalance in Fanconi Anemia and in Other Oxidative Stress-Related Disorders
(Paola Manini and Marco d’Ischia, Department of Chemical Sciences, University of Naples Federico II, Naples, Italy)

Role of Glutathione and Other Antioxidant Related Mechanisms in Fanconi Anemia
(José Luis García Giménez, Carlos Romá-Mateo, Federico V. Pallardó, Department of Physiology, Faculty of Medicine and Dentistry, University of Valencia, Spain)

Proinflammatory Cytokines as Mediators of Oxidative Stress in Fanconi Anemia
(Annarita Aiello Talamanca, Giuseppe Castello, National Cancer Institute “Fondazione Pascale”, CROM Laboratory, Naples, Italy)

Need for in Vivo Characterization of Oxidative Stress and Mitochondrial Dysfunction in Fanconi Anemia Patients
(Giovanni Pagano and Luca Tiano, Italian National Cancer Institute, CROM, Mercogliano, Italy, and others)


Audience: Apart from their relevance in Fanconi Anemia, the subjects of oxidative stress and mitochondrial dysfunction have mechanistic implications in broad-ranging pathologies. Thus, our book may raise interest in a number of specialized medical communities.

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