Heritable Radiosensitive and DNA Repair-Deficient Disorders in Man

  • M. C. Paterson
  • N. T. Bech-Hansen
  • P. J. Smith
Part of the NATO Advanced Study Institutes Series book series (NSSA, volume 40)


The deleterious effects of many environmental agents--ultraviolet (UV) light, ionizing radiation, and polycyclic aromatic hydrocarbons, to cite a few--are primarily attributed to their ability to react with, and thereby structurally modify the deoxyribonucleic acid (DNA) of the living cell1. Given the appreciable level of damage believed to occur naturally in DNA2 and the need to maintain its fidelity as the repository of the genetic script, it s understandable that all living organisms, humans included, should possess multiple cellular processes whose combined actions promote the repair of damage to DNA3. An increasing number of genetically transmitted disorders in man is being found to be associated with enhanced sensitivity to extrinsic DNA-damaging agents. Patients afflicted with any one of these particular Mendelian single-gene traits are typically cancer-prone and suffer from progressive neurodegeneration, and, at least for a few disorders, their cells when cultured in vitro exhibit anomalies in one or more DNA epair processes4–8. The majority of these hereditary diseases can be divided into two broad groups: (i) disorders associated with hypersensitivity to UV light and UV-mimetic chemicals; and (ii) disorders associated with hypersensitivity to ionizing radiation and radiomimetic chemicals. Exemplary diseases of the former group--namely, xeroderma pigmentosum (XP), Bloom syndrome (BS), and Cockayne syndrome--are reviewed elsewhere in this volume. Here we present an overview of the clinical and laboratory features of the latter group of disorders with emphasis on the prototype disease, ataxia telangiectasia (AT)7,8, and comment briefly on current insight into the pathogenesis of these disorders and its implications for theories on environmental carcinogenesis and neurodegenerative processes in man.


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Copyright information

© Plenum Press, New York 1981

Authors and Affiliations

  • M. C. Paterson
    • 1
  • N. T. Bech-Hansen
    • 1
  • P. J. Smith
    • 1
  1. 1.Health Sciences DivisionAtomic Energy of Canada Limited Chalk River Nuclear LaboratoriesChalk RiverCanada

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