Chapter category: Hematology
Fanconi Anaemia and Oxidative Stress: Cellular and Clinical Phenotypes
Molecular Mechanisms of Fanconi Anemia
Edited by: Shamim I. Ahmad and Sandra H. KirkISBN: 0-387-31972-7
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Chapter authors:
Giovanni Pagano and Shamim I. Ahmad
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.
Giovanni Pagano
Shamim I. Ahmad
Nottingham Trent University
Nottingham, England
Additional chapters from this book:
Fanconi Anaemia and Oxidative Stress: Cellular and Clinical Phenotypes
Giovanni Pagano and Shamim I. Ahmad
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 i...
Clinical Features of Fanconi Anaemia
A. Malcolm R. Taylor
Fanconi anaemia is an autosomal recessive disorder in which patients develop bone mar row failure and aplastic anaemia but this can occur at widely differing ages from the first year to age 12 years...
The Genetic Basis of Fanconi Anemia
Grover C. Bagby, Jr.
Seventy-five years ago, Dr. Guido Fanconi reported three siblings who exhibited both congenital defects and aplastic anemia.1 Since then, we have learned that Fanconi anemia (FA) is a rare multigeni...
The FANC B, E, F and G Genes and their Products
Filippo Rosselli
The rare autosomal recessive syndrome Fanconi anemia (FA) leads to bone marrow failure and malignancy predisposition. Moreover, patients may present with several congenital anomalies of the skeleton...
The FANCA Gene and its Products
L. S. Haneline
Fanconi anemia (FA), type A is the most common FA complementation type with muta tions in the FANCA gene accounting for approximately 65% of cases.1,2 The FANCA protein is recognized as an integral ...
FANCD1/BRCA2 and FANCD2
Gary M.Kupfer
The field of FA was both excited as well as surprised when the first cloned genes encoded proteins that resembled no known protein motif. Several binding proteins were described, yet no biochemical ...
The FANC Genome Surveillance Complex
Takayuki Yamashita
FA is an autosomal recessive genetic disorder characterized by progressive bone marrow failure, congenital anomalies and susceptibility to hematological and solid malignancies. The most consistent f...
Mutational Analyses of Fanconi Anemia Genes in Japanese Patients
Akira Tachibana
Fanconi anemia (FA) is an autosomal recessive disorder characterized by a progressive pancytopenia associated with congenital anomalies and high predisposition to malig nancies.1 Certain FA cell lin...
Therapy for Fanconi Anemia
Madeleine Carreau
Treatment of the hematological manifestation in Fanconi anemia is first supportive (trans fusions) with attempts to stimulate hematopoiesis with either androgens, usually oxymetholone, or the hemato...
Other Proteins and Their Interactions With FA Gene Products
Tetsuya Otsuki, Johnson M. Liu
Fanconi anemia (FA) is a genetically heterogeneous disorder, consisting of at least eight complementation groups (FA-A, -B, -C, -D1, -D2, -E, -F and –G).1-3 To date, seven FA genes, FANC-A, -C, -D...
The FANCC Gene and its Products
Susan M. Gordon and Manuel Buchwald
Fanconi anaemia (FA) is an autosomal recessive disorder characterized by progressive pancytopaenia and predisposition to malignancy, often accompanied by congenital malformations. The cellular pheno...
