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  • Hammarsten, OlaGothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine,Laboratory of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden; Department of Laboratory Medicine, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden (author)

Clinical measurement of cellular DNA damage hypersensitivity in patients with DNA repair defects

  • Article/chapterEnglish2022

Publisher, publication year, extent ...

  • 2022-02-14
  • Springer Science and Business Media LLC,2022

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  • LIBRIS-ID:oai:gup.ub.gu.se/314078
  • https://gup.ub.gu.se/publication/314078URI
  • https://doi.org/10.1186/s13023-022-02199-8DOI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-97548URI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:148859394URI

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  • Language:English

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • Funding agencies:University of GothenburgAssar Gabrielsson's Cancer Research Foundation Swedish government ALF agreement Sahlgrenska University Hospital
  • Background: DNA repair deficiency disorders are rare inherited diseases arising from pathogenic (disease-causing) variants in genes involved in DNA repair. There are no standardized diagnostic assays for the investigation of pathological significance of unknown variants in DNA repair genes. We hypothesized that our assays for measuring in vitro patient blood cell hypersensitivity to DNA-damaging agents can be used to establish the pathological significance of unknown variants in DNA repair genes. Six patients with variants in the DNA repair genes PRKDC (two siblings), DCLRE1C (two siblings), NBN, and MSH6 were included. Here, we used the cell division assay (CDA) and the gamma-H2AX assay, which were both developed and clinically validated by us, to measure patient cell hypersensitivity in response to ionizing radiation, mitomycin C, cytarabine and doxorubicin. Results: Radiation hypersensitivity was detected in the two patients with variants in the PRKDC gene (p < 0.0001 for both at 3.5 Gy), and the two patients with DCLRE1C variants (p < 0.0001 at 3.5 Gy for sibling 1 and p < 0.0001 at 1 Gy for sibling 2). The cells from the patients with the PRKDC variant were also deficient in removing gamma-H2AX (p < 0.001). The cells from the patient with variants in the NBN gene were hypersensitive to mitomycin C (p = 0.0008) and deficient in both induction and removal of gamma-H2AX in response to radiation. Conclusions: The combination of the CDA and the gamma-H2AX assay is useful in investigating the significance of unknown variants in some DNA repair genes.

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  • Lyytikainen, A.Laboratory of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden (author)
  • Thunström, SofiaGothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition,Department of Clinical Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden; Department of Internal Medicine and Clinical Nutrition, Sahlgrenska Academy, Gothenburg University, Gothenburg, Sweden (author)
  • Ek, T.Children's Cancer Centre, Queen Silvia Children's Hospital, Gothenburg, Sweden (author)
  • Fasth, Anders,1945Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics,Department of Pediatrics, Institution of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden(Swepub:gu)xfasan (author)
  • Ekwall, Olov,1968Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för reumatologi och inflammationsforskning,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Medicine, Department of Rheumatology and Inflammation Research,Institute of Clinical Sciences, Department of Pediatrics,Department of Pediatrics, Institution of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; Department of Rheumatology and Inflammation Research, Gothenburg University, Gothenburg, Sweden(Swepub:gu)xekwol (author)
  • Cajander, Sara,1980-Örebro universitet,Institutionen för medicinska vetenskaper,Department of Infectious Diseases(Swepub:oru)scr (author)
  • Borgstrom, E. W.Department of Infectious Diseases, The Immunodeficiency Unit, Karolinska University Hospital, Huddinge, Stockholm, Sweden; Division of Infectious Diseases, Department of Medicine, Karolinska Institutet, Solna, Stockholm, Sweden (author)
  • Smith, C. I. E.Karolinska Institutet (author)
  • Johansson, Pegah,1978Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine,Laboratory of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden; Department of Laboratory Medicine, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden(Swepub:gu)xjopeg (author)
  • Göteborgs universitetInstitutionen för biomedicin, avdelningen för laboratoriemedicin (creator_code:org_t)

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  • In:Orphanet Journal of Rare Diseases: Springer Science and Business Media LLC17:11750-1172

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