The assessment of radiosensitivity in patients with ataxia-telangiectasia syndrome and in carriers of the mutated ATM gene using lymphoblastoid cell lines

ORIGINAL ARTICLE

The assessment of radiosensitivity in patients with ataxia-telangiectasia syndrome and in carriers of the mutated ATM gene using lymphoblastoid cell lines

Barbara Pietrucha 1 , Hanna Gregorek 2 , Edyta Heropolitańska-Pliszka 1 , Bożena Cukrowska 3 , Ewa Konopka 3 , Ewa Bernatowska 1

1. Department of Immunology, The Children’s Memorial Health Institute, Warsaw, Poland,
2. Department of Microbilogy and Clinical Immunology, The Children’s Memorial Health Institute, Warsaw, Poland,
3. Department of Pathology, The Children’s Memorial Health Institute, Warsaw, Poland,

Published: 2018-10-01
DOI: 10.5604/01.3001.0012.5856
GICID: 01.3001.0012.5856
Available language versions: en pl
Issue: Postepy Hig Med Dosw 2018; 72 : 846-852

 

Abstract

Introduction: Hypersensitivity to ionising radiation is most often observed in the course of primary immunodeficiency diseases, which are associated with dysfunctional DNA repair, especially with the repair of double-strand breaks. Due to phenotypic similarities between primary immunodeficiency diseases, radiosensitivity testing can prove useful in early differential diagnosis, when attempting to identify patients with increased toxic reactivity to radio- and chemotherapy, and can have an impact on the process of their preparation for stem cell transplantation. Aim: The aim of the study was to assess the radiosensitivity in vitro of patients with ataxia-telangiectasia (A-T) syndrome, and their parents, carriers of one copy of the mutated ATM gene. Material/Methods: Lymphoblastoid cell lines (LCLs) from 15 A-T patients (remaining under the care of the Immunology Clinic and Immunology Outpatient Clinic of the Children’s Memorial Health Institute) and 11 mothers and 11 fathers of A-T patients, were used for radiosensitivity assessment. A standard colony survival assay (CSA) was applied in the tests. Results: A markedly decreased survival fraction (SF) of LCLs after in vitro exposure to X-rays was observed in all A-T patients when compared to control cells. A clear diversification of radiosensitivity to ionising radiation was observed among obligate heterozygotes. SF for heterozygotes was between 1% and 53%, i.e. varied from the values in healthy individuals to the extreme values observed in A-T patients. Conclusion: The assessment of cell radiosensitivity in A-T patients using CSA may be a useful additional test for confirming a clinically suspected disease. In heterozygous carriers, it can be an indicator of increased risk of carcinogenesis, and in both A-T patients and their parents can be helpful in making decisions with regard to radio- and/or chemotherapy.

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