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FältnamnIndikatorerMetadata
00007231naa a2200721 4500
001oai:gup.ub.gu.se/314078
003SwePub
008240528s2022 | |||||||||||000 ||eng|
009oai:DiVA.org:oru-97548
009oai:prod.swepub.kib.ki.se:148859394
0247 a https://gup.ub.gu.se/publication/3140782 URI
0247 a https://doi.org/10.1186/s13023-022-02199-82 DOI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-975482 URI
0247 a http://kipublications.ki.se/Default.aspx?queryparsed=id:1488593942 URI
040 a (SwePub)gud (SwePub)orud (SwePub)ki
041 a eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Hammarsten, Olau Gothenburg 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, Sweden4 aut0 (Swepub:gu)xhamol
2451 0a Clinical measurement of cellular DNA damage hypersensitivity in patients with DNA repair defects
264 c 2022-02-14
264 1b Springer Science and Business Media LLC,c 2022
500 a Funding agencies:University of GothenburgAssar Gabrielsson's Cancer Research Foundation Swedish government ALF agreement Sahlgrenska University Hospital
520 a 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.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
650 7a NATURVETENSKAPx Biologix Cellbiologi0 (SwePub)106042 hsv//swe
650 7a NATURAL SCIENCESx Biological Sciencesx Cell Biology0 (SwePub)106042 hsv//eng
653 a Cell division assay (CDA)
653 a gamma-H2AX
653 a DNA repair deficiency disorders
653 a Ionizing radiation sensitivity
653 a Mitomycin C sensitivity
653 a Clinical
653 a diagnosis
653 a strand break repair
653 a functional-role
653 a fanconi-anemia
653 a gamma-h2ax
653 a diseases
653 a assay
653 a nbs1
653 a Genetics & Heredity
653 a Research & Experimental Medicine
653 a Cell division assay (CDA)
7001 a Lyytikainen, A.u Laboratory of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden4 aut
7001 a Thunström, Sofiau Gothenburg 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, Sweden4 aut
7001 a Ek, T.u Children's Cancer Centre, Queen Silvia Children's Hospital, Gothenburg, Sweden4 aut
7001 a Fasth, Anders,d 1945u Gothenburg 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, Sweden4 aut0 (Swepub:gu)xfasan
7001 a Ekwall, Olov,d 1968u Gothenburg 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, Sweden4 aut0 (Swepub:gu)xekwol
7001 a Cajander, Sara,d 1980-u Örebro universitet,Institutionen för medicinska vetenskaper,Department of Infectious Diseases4 aut0 (Swepub:oru)scr
7001 a Borgstrom, E. W.u Department of Infectious Diseases, The Immunodeficiency Unit, Karolinska University Hospital, Huddinge, Stockholm, Sweden; Division of Infectious Diseases, Department of Medicine, Karolinska Institutet, Solna, Stockholm, Sweden4 aut
7001 a Smith, C. I. E.u Karolinska Institutet4 aut
7001 a Johansson, Pegah,d 1978u Gothenburg 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, Sweden4 aut0 (Swepub:gu)xjopeg
7102 a Göteborgs universitetb Institutionen för biomedicin, avdelningen för laboratoriemedicin4 org
7730 t Orphanet Journal of Rare Diseasesd : Springer Science and Business Media LLCg 17:1q 17:1x 1750-1172
8564 u https://ojrd.biomedcentral.com/track/pdf/10.1186/s13023-022-02199-8
8564 u https://doi.org/10.1186/s13023-022-02199-8y Fulltext
8564 8u https://gup.ub.gu.se/publication/314078
8564 8u https://doi.org/10.1186/s13023-022-02199-8
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-97548
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:148859394

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