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Advances in DNA Repair Disorders Research: Molecular Mechanisms, Novel Therapies...
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Advances in DNA Repair Disorders Research: Molecular Mechanisms, Novel Therapies and Implications for Understanding Aging, Neurological Dysfunction and Cancer Progression

A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Cell Nuclei: Function, Transport and Receptors".

Deadline for manuscript submissions: 30 September 2024 | Viewed by 1272

Special Issue Editor

Dr. Manuela Lanzafame

E-Mail Website
Guest Editor
Consiglio Nazionale delle Ricerche, Istituto di Genetica Molecolare, Pavia, Italy
Interests: DNA repair disorders; aging; cancer; neurodegeneration; transcription; 3D tumor models

Special Issue Information

Dear Colleagues,

DNA repair defective diseases, encompassing a spectrum of disorders such as xeroderma pigmentosum, Trichotioystrophy, Cockayne syndrome, Ataxia-telangiectasia, Boom syndrome, Werener syndrome, Fanconi Anemia, and Hutchinson–Gilford progeria syndrome, underline the critical importance of DNA repair mechanisms in maintaining genomic stability. These conditions manifest as heightened susceptibility to cancer, accelerated aging, neurological dysfunction, and a plethora of other health challenges. A deep understanding of the molecular basis of these disorders is pivotal for the development of effective therapies. Moreover, studying the cells of these patients offers a unique opportunity to explore the complexities of DNA repair pathways and can serve as invaluable models to decipher the links between DNA repair, aging, and cancer.

This Special Issue of Cells aims to bring together the latest research and discoveries in the field in a collection of original research articles and reviews.

Topics include exploration of the intricate molecular mechanisms and signaling pathways at the basis of DNA repair-defective disorders, novel therapies and interventions designed to correct DNA repair deficiencies and the use of patients’ cells as a model to decipher the critical connection between DNA repair, aging, neurological dysfunction and tumorigenesis.

Dr. Manuela Lanzafame
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cells is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • DNA repair diseases
  • molecular mechanism
  • signaling pathway
  • therapies
  • aging
  • cancer
  • neurological dysfunction

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Published Papers (1 paper)

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Research

22 pages, 14282 KiB  
Article
Synergistic Roles of Non-Homologous End Joining and Homologous Recombination in Repair of Ionizing Radiation-Induced DNA Double Strand Breaks in Mouse Embryonic Stem Cells
by Gerarda van de Kamp, Tim Heemskerk, Roland Kanaar and Jeroen Essers
Cells 2024, 13(17), 1462; https://doi.org/10.3390/cells13171462 - 30 Aug 2024
Viewed by 503
Abstract
DNA double strand breaks (DSBs) are critical for the efficacy of radiotherapy as they lead to cell death if not repaired. DSBs caused by ionizing radiation (IR) initiate histone modifications and accumulate DNA repair proteins, including 53BP1, which forms distinct foci at damage [...] Read more.
DNA double strand breaks (DSBs) are critical for the efficacy of radiotherapy as they lead to cell death if not repaired. DSBs caused by ionizing radiation (IR) initiate histone modifications and accumulate DNA repair proteins, including 53BP1, which forms distinct foci at damage sites and serves as a marker for DSBs. DSB repair primarily occurs through Non-Homologous End Joining (NHEJ) and Homologous Recombination (HR). NHEJ directly ligates DNA ends, employing proteins such as DNA-PKcs, while HR, involving proteins such as Rad54, uses a sister chromatid template for accurate repair and functions in the S and G2 phases of the cell cycle. Both pathways are crucial, as illustrated by the IR sensitivity in cells lacking DNA-PKcs or Rad54. We generated mouse embryonic stem (mES) cells which are knockout (KO) for DNA-PKcs and Rad54 to explore the combined role of HR and NHEJ in DSB repair. We found that cells lacking both DNA-PKcs and Rad54 are hypersensitive to X-ray radiation, coinciding with impaired 53BP1 focus resolution and a more persistent G2 phase cell cycle block. Additionally, mES cells deficient in DNA-PKcs or both DNA-PKcs and Rad54 exhibit an increased nuclear size approximately 18–24 h post-irradiation. To further explore the role of Rad54 in the absence of DNA-PKcs, we generated DNA-PKcs KO mES cells expressing GFP-tagged wild-type (WT) or ATPase-defective Rad54 to track the Rad54 foci over time post-irradiation. Cells lacking DNA-PKcs and expressing ATPase-defective Rad54 exhibited a similar phenotypic response to IR as those lacking both DNA-PKcs and Rad54. Despite a strong G2 phase arrest, live-cell imaging showed these cells eventually progress through mitosis, forming micronuclei. Additionally, mES cells lacking DNA-PKcs showed increased Rad54 foci over time post-irradiation, indicating an enhanced reliance on HR for DSB repair without DNA-PKcs. Our findings underscore the essential roles of HR and NHEJ in maintaining genomic stability post-IR in mES cells. The interplay between these pathways is crucial for effective DSB repair and cell cycle progression, highlighting potential targets for enhancing radiotherapy outcomes. Full article
(This article belongs to the Special Issue Advances in DNA Repair Disorders Research: Molecular Mechanisms, Novel Therapies and Implications for Understanding Aging, Neurological Dysfunction and Cancer Progression)
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