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Genome damage in children with classical Ehlers-Danlos syndrome - An in vivo and in vitro study.

Authors
  • Aghajanyan, Anna1
  • Fucic, Aleksandra2
  • Tskhovrebova, Leila1
  • Gigani, Olga1
  • Konjevoda, Pasko3
  • 1 Medical Institute Peoples' Friendship University of Russia (RUDN University), Moscow, Russia.
  • 2 Institute for Medical Research and Occupational Health, Zagreb, Croatia. Electronic address: [email protected] , (Croatia)
  • 3 Institute "Rudjer Boskovic", Zagreb, Croatia. , (Croatia)
Type
Published Article
Journal
European journal of medical genetics
Publication Date
Nov 01, 2019
Volume
62
Issue
11
Pages
103546–103546
Identifiers
DOI: 10.1016/j.ejmg.2018.09.013
PMID: 30342098
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

Ehlers-Danlos syndrome (EDS) is a heritable connective tissue disorder characterized by skin hyperextensibility, abnormal wound healing, and joint hypermobility with prevalence 1:20 000. Its incidence is probably underestimated due to unknown number of subjects having mild symptoms who may have never been diagnosed through entire life time. Classical EDS is characterized by pathogenic variants of genes encoding type V collagen. The biological effects and health risks of patients with EDS exposure to low doses of ionizing radiation is poorly understood. The aim of this study was to investigate biological effect of low doses of ionizing radiation in children with EDS. Background values of chromosome aberrations in children suffering from classical EDS were determined and compared with control subjects. The in vitro experiment was performed by γ-irradiation of blood lymphocytes from EDS patients and healthy subjects at low doses (0.1, 0.2 and 0.3 Gy). Results show a significant increase level of spontaneous and radiation-induced chromosomal aberrations in children suffering from EDS in comparison with the control subjects (p < 0.05). In conclusion, children with EDS express higher background chromosome aberration frequency and increased radiosensitivity. These findings suggest specific susceptibility of EDS patients and importance of future investigation on risks of diagnostics and therapy which include radiation and genotoxic agents. Copyright © 2018. Published by Elsevier Masson SAS.

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