title: Radiosensitivity in lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients.
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.
authors: 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.
authors: J
authors: J
authors: Morini
authors: Department of Physics, University of Pavia, Pavia, Italy INFN National Institute of Nuclear Physics, Section of Pavia, Pavia, Italy.
authors: G
authors: G
authors: Babini
authors: 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.
authors: L
authors: L
authors: Mariotti
authors: Department of Physics, University of Pavia, Pavia, Italy INFN National Institute of Nuclear Physics, Section of Pavia, Pavia, Italy.
authors: G
authors: G
authors: Baiocco
authors: Department of Molecular Medicine, Biology and Medical Genetics Unit, University of Pavia, Pavia, Italy.
authors: L
authors: L
authors: Nacci
authors: Department of Molecular Medicine, Immunology and General Pathology Unit, University of Pavia, Pavia, Italy.
authors: C
authors: C
authors: Maccario
authors: Department of Radiation Protection and Health, Federal Office for Radiation Protection, Germany.
authors: U
authors: U
authors: Rößler
authors: Department of Molecular Medicine, Biology and Medical Genetics Unit, University of Pavia, Pavia, Italy.
authors: A
authors: A
authors: Minelli
authors: Department of Radiation Protection and Health, Federal Office for Radiation Protection, Germany.
authors: M
authors: M
authors: Savio
authors: Department of Radiation Protection and Health, Federal Office for Radiation Protection, Germany.
authors: M
authors: M
authors: Gomolka
authors: Department of Radiation Protection and Health, Federal Office for Radiation Protection, Germany.
authors: U
authors: U
authors: Kulka
authors: Department of Physics, University of Pavia, Pavia, Italy INFN National Institute of Nuclear Physics, Section of Pavia, Pavia, Italy.
authors: A
authors: A
authors: Ottolenghi
authors: Department of Molecular Medicine, Biology and Medical Genetics Unit, University of Pavia, Pavia, Italy.
authors: C
authors: C
authors: Danesino
mesh_terms: D001855:Bone Marrow Diseases / Q000235:genetics* / Q000532:radiotherapy*; D020552:Comet Assay; D004249:DNA Damage / Q000528:radiation effects*; D004260:DNA Repair / Q000528:radiation effects*; D010188:Exocrine Pancreatic Insufficiency / Q000235:genetics* / Q000532:radiotherapy*; D005720:Gamma Rays; D006657:Histones / Q000235:genetics; D006801:Humans; D007700:Kinetics; D008068:Lipomatosis / Q000235:genetics* / Q000532:radiotherapy*; D008214:Lymphocytes / Q000528:radiation effects*; D011506:Proteins / Q000235:genetics / Q000378:metabolism; D011836:Radiation Tolerance / Q000235:genetics*; D000081003:Shwachman-Diamond Syndrome; D014965:X-Rays
chemical_list: C468783:H2AX protein, human; D006657:Histones; D011506:Proteins; C470521:SBDS protein, human