Radiosensitivity in lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients
| Autor: | Monica Savio, Cristina Maccario, Maria Gomolka, Andrea Ottolenghi, Luca Mariotti, Lucia Nacci, Gabriele Babini, Antonella Minelli, Ulrike Kulka, Cesare Danesino, Jacopo Morini, U. Rößler, Giorgio Baiocco |
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| Rok vydání: | 2015 |
| Předmět: |
DNA Repair
DNA repair Radiation Tolerance Histones medicine Humans Lipomatosis Radiology Nuclear Medicine and imaging Radiosensitivity Lymphocytes Gene Bone Marrow Diseases Shwachman–Diamond syndrome Radiation Radiological and Ultrasound Technology business.industry X-Rays Public Health Environmental and Occupational Health Bone marrow failure Proteins General Medicine SBDS medicine.disease DNA Repair Kinetics Shwachman-Diamond Syndrome Comet assay Kinetics Gamma Rays Cancer research Exocrine Pancreatic Insufficiency Comet Assay business DNA Damage |
| Zdroj: | Europe PubMed Central |
| ISSN: | 1742-3406 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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