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Ataxia-telangiectasia: an inherited disorder of ionizing-radiation sensitivity in man

Progress in the elucidation of the underlying biochemical defect

  • Review Article
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Summary

This review summarizes the current research on the biochemical defect leading to ataxia-telangiectasia (AT). A DNA repair defect has been linked to AT, although the precise defect has not been found. A critical examination of the evidence for and against a DNA repair defect in AT is presented. Consideration of other recent data on AT raises the possibility that AT may not primarily be the result of a DNA repair defect. Therefore, in this review AT is approached as a syndrome which is defective in the ability to respond to ionizing-radiation-type damage, rather than defective in the ability to repair this damage. However, this does not necessarily exclude the potential involvement of a DNA repair defect in some of the genetically distinct subsets present in AT. Other recent anomalies found in AT, including an altered cell cycle and DNA synthesis profile following ionizing-radiation damage, are also assessed. A suggestion to account for the underlying defect in AT, based on the various research reports, is presented.

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  1. P. J. McKinnon

    Present address: Department of Biochemistry, University of Adelaide, 5000, Adelaide, S.A., Australia

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  1. School of Biological Sciences, The Flinders University of South Australia, 5042, Bedford Park, S.A., Australia

    P. J. McKinnon

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McKinnon, P.J. Ataxia-telangiectasia: an inherited disorder of ionizing-radiation sensitivity in man. Hum Genet 75, 197–208 (1987). https://doi.org/10.1007/BF00281059

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