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PMID: 3549535 Published · ppublish English Journal Article Review

Ataxia-telangiectasia: an inherited disorder of ionizing-radiation sensitivity in man. Progress in the elucidation of the underlying biochemical defect.

Human genetics ·Vol. 75 ·No. 3 ·1987-03-00 ·Pages 197-208

McKinnon PJ

Abstract

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.

MeSH Terms
Ataxia Telangiectasia/genetics Cell Cycle DNA Damage DNA Repair Genetic Carrier Screening Humans Radiation Tolerance
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
McKinnon P J
References (140)
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00281059
Published
1987-03-00
Pages
197-208
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00281059 View journal details
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