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Radiat Prot Dosimetry. 2015 Sep;166(1-4):95-100. doi: 10.1093/rpd/ncv152. Epub 2015 Apr 12.

Radiosensitivity in lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients.

Author information

1
Department of Molecular Medicine, Biology and Medical Genetics Unit, University of Pavia, Pavia, Italy Department of Physics, University of Pavia, Pavia, Italy INFN National Institute of Nuclear Physics, Section of Pavia, Pavia, Italy jacopo.morini01@ateneopv.it.
2
Department of Physics, University of Pavia, Pavia, Italy INFN National Institute of Nuclear Physics, Section of Pavia, Pavia, Italy.
3
Department of Physics, University of Pavia, Pavia, Italy INFN National Institute of Nuclear Physics, Section of Pavia, Pavia, Italy Gray Institute for Radiation Oncology and Biology, Oxford, UK.
4
Department of Molecular Medicine, Biology and Medical Genetics Unit, University of Pavia, Pavia, Italy.
5
Department of Molecular Medicine, Immunology and General Pathology Unit, University of Pavia, Pavia, Italy.
6
Department of Radiation Protection and Health, Federal Office for Radiation Protection, Germany.

Abstract

Shwachman-Diamond syndrome is an autosomal-recessive disorder characterised by bone marrow failure and a cumulative risk of progression to acute myeloid leukaemia. The Shwachman-Bodian-Diamond syndrome (SBDS) gene, the only gene known to be causative of the pathology, is involved in ribosomal biogenesis, stress responses and DNA repair, and the lack of SBDS sensitises cells to many stressors and leads to mitotic spindle destabilisation. The effect of ionising radiation on SBDS-deficient cells was investigated using immortalised lymphocytes from SDS patients in comparison with positive and negative controls in order to test whether, in response to ionising radiation exposure, any impairment in the DNA repair machinery could be observed. After irradiating cells with different doses of X-rays or gamma-rays, DNA repair kinetics and the residual damages using the alkaline COMET assay and the γ-H2AX assay were assessed, respectively. In this work, preliminary data about the comparison between ionising radiation effects in different patients-derived cells and healthy control cells are presented.

PMID:
25870433
DOI:
10.1093/rpd/ncv152
[Indexed for MEDLINE]

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