Free Radical Mechanisms for Chromosomal Instability in Bloom’s Syndrome
Bloom’s syndrome (BS) is an extremely rare autosomal recessive disorder initially identified in Ashkenazi Jews and later found to be widespread in the general population (1). The distinguishing clinical features of this disorder are numerous and include severe growth deficiency, sun-sensitive facial skin lesions, areas of hypo- and hyper-pigmentation of the skin and immunodeficiency, leading to infections of the respiratory tract and chronic iung disease (1). A newly recognized complication is the development of diabetes mellitus (1). The most prominent feature of BS is a marked predisposition towards the development of cancer (1,2). The age of onset is considerably earlier than that of the general population and approximately 40% of the clinically verified cases develop neoplasms with a mean age of less than 25 years at the time of diagnosis (2). Nearly one third of the surviving cancer patients develop multiple primary tumors. There is no consistent pattern in the occurrence of the cancer type or its location.
KeywordsNADPH Oxidase Sister Chromatid Exchange Chromosomal Damage Rare Autosomal Recessive Disorder Bloom Syndrome
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- 9.J.E. Cleaver, Defective repair replication of DNA in Xeroderma Pigmentosum. Nature 28:652–656 968).Google Scholar
- 20.M.L. Salin, and J. McCord, Superoxide dismutases in polymorphonuclear leukocytes. J. Clin. Chem. 54:1005–1009 (1974).Google Scholar
- 21.O.H. Lowry, N.J. Rosebrough, A.L. Farr and R.J. Randall, Protein measurement with the folin phenol reagent. J. Biol. Chem. 176:265–275 (1951).Google Scholar
- 30.Sasaki, M.S. Sister chromatid exchange as a cellular reflection of DNA repair. in: Sister Chromatid Exchange, A.A. Sandberg, ed., A.R. Liss NY (1982).Google Scholar
- 31.Knudson, A.G. Genetic predisposition to cancer. in: Genetic susceptibility to environmental mutagens and carcinogens. A.D. Bloom, L. Spatz and N.W. Paul, eds. March of Dimes, White Plains, (1990).Google Scholar
- 33.N.C. Popescu and J.A. Dipaolo, Relevance of sister chromatid exchange to the induction of neoplastic transformation in: Sister chromatid Exchange, A.A. Sandberg, ed., A.R. Liss NY (1982).Google Scholar