AI Article Synopsis
Article Abstract
The autosomal recessive genetic disorder Nijmegen breakage syndrome (NBS) was first described in 1981 in patients living in Nijmegen, Holland. NBS patients display a characteristic facial appearance, microcephaly and a range of symptoms including immunodeficiency, increased cancer risk and growth retardation. In addition, NBS patient cells were found to have elevated levels of chromosomal damage and to be sensitive to ionizing irradiation (IR). This radiosensitivity had fatal consequences in some undiagnosed patients. The most dangerous DNA lesion caused by IR is considered to be the double-strand break (DSB) and indeed, NBS patient cells are sensitive to all mutagens that produce DSBs directly or indirectly. We discuss here our current understanding of how a deficiency in DSB repair manifests as the particular symptom complex of NBS.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1038/sj.onc.1210876 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The Significance of the Response: Beyond the Mechanics of DNA Damage and Repair-Physiological, Genetic, and Systemic Aspects of Radiosensitivity in Higher Organisms.
Int J Mol Sci
December 2024
Institute of Biodiversity and Ecosystem Research, Bulgarian Academy of Sciences, 1113 Sofia, Bulgaria.
Classical radiation biology as we understand it clearly identifies genomic DNA as the primary target of ionizing radiation. The evidence appears rock-solid: ionizing radiation typically induces DSBs with a yield of ~30 per cell per Gy, and unrepaired DSBs are a very cytotoxic lesion. We know very well the kinetics of induction and repair of different types of DNA damage in different organisms and cell lines.
View Article and Find Full Text PDFNeuroblastoma Occurring in Nijmegen Breakage Syndrome.
J Pediatr Hematol Oncol
January 2025
Medical Faculty, University of Belgrade.
Nijmegen breakage syndrome (NBS) is a rare primary immunodeficiency disease due to a pathogenic variant in the NBN gene causing impaired DNA repair and increased predisposition for lymphoid malignancy. By contrast, solid tumors have been rarely reported. Neuroblastoma (NB) is a rare childhood solid tumor, associated with the worse outcome if MYCN oncogene is amplified.
View Article and Find Full Text PDFRevision of Press-Fit Bone-Anchored Prosthesis After Implant Failure.
JBJS Essent Surg Tech
October 2024
AOFE Clinics, Rozendaal, The Netherlands.
Background: The present video article describes the revision of a bone-anchored prosthesis in patients who received an osseointegration implant after transfemoral amputation. Clinical follow-up studies have shown that approximately 5% of all patients who receive press-fit cobalt-chromium alloy femoral implants experience failure of the intramedullary stem component as a result of septic loosening or stem breakage. For stem breakage, stem diameter and the occurrence of infectious events were identified as risk factors.
View Article and Find Full Text PDFNBS1 dePARylation by NUDT16 is critical for DNA double-strand break repair.
Mol Cell Biochem
October 2024
Department of Cancer Biology, Cleveland Clinic Lerner Research Institute, 9500 Euclid Avenue, Cleveland, OH, 44195, USA.
NBS1, a protein linked to the autosomal recessive disorder Nijmegen breakage syndrome, plays an essential role in the DNA damage response and DNA repair. Despite its importance, the mechanisms regulating NBS1 and the impact of this regulation on DNA repair processes remain obscure. In this study, we discovered a new post-translational modification of NBS1, ADP-ribosylation.
View Article and Find Full Text PDFResolution of granulomatous lesions in a Nijmegen breakage syndrome patient with severe immunodeficiency after hematopoietic stem cell transplantation.
Pediatr Allergy Immunol
September 2024
Department of Pediatric Hematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital in Motol, Prague, Czechia.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!