Free Radical Mechanisms for Chromosomal Instability in Bloom’s Syndrome

  • Thomas M. Nicotera
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 366)

Abstract

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.

Keywords

DMSO Superoxide Respiration Cyanide NADPH 

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Copyright information

© Springer Science+Business Media New York 1994

Authors and Affiliations

  • Thomas M. Nicotera
    • 1
  1. 1.Biophysics DepartmentRoswell Park Cancer InstituteBuffaloUSA

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