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Epigenetic Biomarkers—Technologies and Applications in Complex Disease Diagnostics and Beyond

Special Issue Editor


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Guest Editor
AIT Austrian Institute of Technology GmbH, 1210 Vienna, Austria
Interests: DNA methylation; microRNAs; multi-omics biomarkers; liquid biopsy (blood, saliva, and CSF); extracellular vesicles; microarrays; next-generation sequencing; biomarkers for cancer-, cardiovascular-, and immune-mediated disease diagnostics
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Special Issue Information

Dear Colleagues,

The three main epigenetic mechanisms in mammalian cells are histone modification, DNA methylation, and non-coding RNA, and each mechanism works in a different way to regulate gene expression. Among epigenetic factors, DNA methylation is the longest known and best studied, as it plays an important role in imprinting and the developmental control of gene expression. Nevertheless, most importantly, the changes in DNA methylation patterns and microRNA profiles have been associated with health, aging, and many diseases. As DNA methylation and miRNA marks often represent an early event in the pathological process and are fairly stable and detectable in biological fluids, they are excellent biomarkers for liquid biopsy disease diagnosis. The availability of genome-wide technologies for DNA methylation and microRNA profiling, which are becoming more and more sensitive, has revolutionized the field of epigenetics and led to the discovery of a number of epigenetic biomarkers used in complex disease detection, as well as the prognosis, monitoring, and prediction of therapeutic responses.

In this Special Issue, we will discuss epigenetic biomarkers. The scope of this study ranges from the most basic to the most clinically applied mechanisms, incorporating methodologies, applications, and implications.

We request the submission of research articles or reviews on the following topics: DNA methylation, non-coding RNA, microRNA, liquid biopsy, extracellular vesicles, and technologies for epigenomics. In line with the journal’s mission—IJMS is a journal of molecular science—pure clinical studies are not suitable, but clinical submissions with biomolecular experiments are welcome.

Dr. Christa Nöhammer
Guest Editor

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Keywords

  • epigenetics
  • DNA/RNA methylation
  • microRNAs
  • biomarkers
  • molecular technologies
  • tissue
  • biological fluids

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Published Papers (2 papers)

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Research

15 pages, 2143 KiB  
Article
Use of Gain-of-Function Screening to Identify miRNAs Involved in Paclitaxel Resistance in Triple-Negative Breast Cancer
by Stéphane Nemours, Carla Solé, Ibai Goicoechea, María Armesto, María Arestin, Ander Urruticoechea, Marta Rezola, Isabel Álvarez López, Roel Schaapveld, Iman Schultz, Lei Zhang and Charles H. Lawrie
Int. J. Mol. Sci. 2024, 25(24), 13630; https://doi.org/10.3390/ijms252413630 - 20 Dec 2024
Viewed by 564
Abstract
Paclitaxel is a widely used chemotherapeutic agent for the treatment of breast cancer (BC), including as a front-line treatment for triple-negative breast cancer (TNBC) patients. However, resistance to paclitaxel remains one of the major causes of death associated with treatment failure. Multiple studies [...] Read more.
Paclitaxel is a widely used chemotherapeutic agent for the treatment of breast cancer (BC), including as a front-line treatment for triple-negative breast cancer (TNBC) patients. However, resistance to paclitaxel remains one of the major causes of death associated with treatment failure. Multiple studies have demonstrated that miRNAs play a role in paclitaxel resistance and are associated with both disease progression and metastasis. In the present study, we used a miRNA-encoding lentiviral library as a gain-of-function screen for paclitaxel resistance in the MDA-MB-231 TNBC cell line. We identified that miR-181b, miR-29a, miR-30c, miR-196 and miR-1295 conferred a resistant phenotype to cells. The expression of miR-29a also induced resistance to eribulin and vinorelbine, while miR-181b and miR-30c induced resistance to vinorelbine. We measured the levels of these miRNAs in breast cancer patients and observed higher levels of miR-29a in treatment-refractory patients. Taken together, we suggest that miR-29a and miR-181b may be good candidates for miRNA inhibition to overcome resistance to chemotherapy. Full article
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22 pages, 5245 KiB  
Article
Radiation-Induced miRNAs Changes and cf mtDNA Level in Trauma Surgeons: Epigenetic and Molecular Biomarkers of X-ray Exposure
by Assiya Kussainova, Akmaral Aripova, Milana Ibragimova, Rakhmetkazhi Bersimbaev and Olga Bulgakova
Int. J. Mol. Sci. 2024, 25(15), 8446; https://doi.org/10.3390/ijms25158446 - 2 Aug 2024
Viewed by 1123
Abstract
Exposure to ionizing radiation can result in the development of a number of diseases, including cancer, cataracts and neurodegenerative pathologies. Certain occupational groups are exposed to both natural and artificial sources of radiation as a consequence of their professional activities. The development of [...] Read more.
Exposure to ionizing radiation can result in the development of a number of diseases, including cancer, cataracts and neurodegenerative pathologies. Certain occupational groups are exposed to both natural and artificial sources of radiation as a consequence of their professional activities. The development of non-invasive biomarkers to assess the risk of exposure to ionizing radiation for these groups is of great importance. In this context, our objective was to identify epigenetic and molecular biomarkers that could be used to monitor exposure to ionizing radiation. The impact of X-ray exposure on the miRNAs profile and the level of cf mtDNA were evaluated using the RT-PCR method. The levels of pro-inflammatory cytokines in their blood were quantified using the ELISA method. A significant decrease in miR-19a-3p, miR-125b-5p and significant increase in miR-29a-3p was observed in the blood plasma of individuals exposed to X-ray. High levels of pro-inflammatory cytokines and cf mtDNA were also detected. In silico identification of potential targets of these miRNAs was conducted using MIENTURNET. VDAC1 and ALOX5 were identified as possible targets. Our study identified promising biomarkers such as miRNAs and cf mtDNA that showed a dose-dependent effect of X-ray exposure. Full article
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