Next-Generation Sequencing in the Assessment of the Transcriptomic Landscape of DNA Damage Repair Genes in Abdominal Aortic Aneurysm, Chronic Venous Disease and Lower Extremity Artery Disease
Vascular diseases are one of the most common causes of death and morbidity. Lower extremity artery disease (LEAD), abdominal aortic aneurysm (AAA) and chronic venous disease (CVD) belong to this group of conditions and exhibit various presentations and courses; thus, there is an urgent need for reve...
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MDPI AG
2022-12-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/24/1/551 |
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| author | Karol P. Ruszel Daniel P. Zalewski Andrzej Stępniewski Dariusz Gałkowski Jacek Bogucki Marcin Feldo Bartosz J. Płachno Janusz Kocki Anna Bogucka-Kocka |
| author_facet | Karol P. Ruszel Daniel P. Zalewski Andrzej Stępniewski Dariusz Gałkowski Jacek Bogucki Marcin Feldo Bartosz J. Płachno Janusz Kocki Anna Bogucka-Kocka |
| author_sort | Karol P. Ruszel |
| collection | DOAJ |
| description | Vascular diseases are one of the most common causes of death and morbidity. Lower extremity artery disease (LEAD), abdominal aortic aneurysm (AAA) and chronic venous disease (CVD) belong to this group of conditions and exhibit various presentations and courses; thus, there is an urgent need for revealing new biomarkers for monitoring and potential treatment. Next-generation sequencing of mRNA allows rapid and detailed transcriptome analysis, allowing us to pinpoint the most pronounced differences between the mRNA expression profiles of vascular disease patients. Comparison of expression data of 519 DNA-repair-related genes obtained from mRNA next-generation sequencing revealed significant transcriptomic marks characterizing AAA, CVD and LEAD. Statistical, gene set enrichment analysis (GSEA), gene ontology (GO) and literature analyses were applied and highlighted many DNA repair and accompanying processes, such as cohesin functions, oxidative stress, homologous recombination, ubiquitin turnover, chromatin remodelling and DNA double-strand break repair. Surprisingly, obtained data suggest the contribution of genes engaged in the regulatory function of DNA repair as a key component that could be used to distinguish between analyzed conditions. DNA repair–related genes depicted in the presented study as dysregulated in AAA, CVD and LEAD could be utilized in the design of new biomarkers or therapies associated with these diseases. |
| first_indexed | 2024-03-11T09:58:44Z |
| format | Article |
| id | doaj.art-3e786e8bfd5a4e349bc6c97c3b495063 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-11T09:58:44Z |
| publishDate | 2022-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-3e786e8bfd5a4e349bc6c97c3b4950632023-11-16T15:35:30ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672022-12-0124155110.3390/ijms24010551Next-Generation Sequencing in the Assessment of the Transcriptomic Landscape of DNA Damage Repair Genes in Abdominal Aortic Aneurysm, Chronic Venous Disease and Lower Extremity Artery DiseaseKarol P. Ruszel0Daniel P. Zalewski1Andrzej Stępniewski2Dariusz Gałkowski3Jacek Bogucki4Marcin Feldo5Bartosz J. Płachno6Janusz Kocki7Anna Bogucka-Kocka8Department of Clinical Genetics, Chair of Medical Genetics, Medical University of Lublin, 11 Radziwiłłowska St., 20-080 Lublin, PolandChair and Department of Biology and Genetics, Medical University of Lublin, 4a Chodźki St., 20-093 Lublin, PolandEcotech Complex Analytical and Programme Centre for Advanced Environmentally Friendly Technologies, University of Marie Curie-Skłodowska, 39 Głęboka St., 20-612 Lublin, PolandDepartment of Pathology and Laboratory Medicine, Rutgers-Robert Wood Johnson Medical School, One Robert Wood Johnson Place, New Brunswick, NJ 08903, USAChair and Department of Organic Chemistry, Medical University of Lublin, 4a Chodźki St., 20-093 Lublin, PolandChair and Department of Vascular Surgery and Angiology, Medical University of Lublin, 11 Staszica St., 20-081 Lublin, PolandDepartment of Plant Cytology and Embryology, Institute of Botany, Faculty of Biology, Jagiellonian University in Kraków, 9 Gronostajowa St., 30-387 Kraków, PolandDepartment of Clinical Genetics, Chair of Medical Genetics, Medical University of Lublin, 11 Radziwiłłowska St., 20-080 Lublin, PolandChair and Department of Biology and Genetics, Medical University of Lublin, 4a Chodźki St., 20-093 Lublin, PolandVascular diseases are one of the most common causes of death and morbidity. Lower extremity artery disease (LEAD), abdominal aortic aneurysm (AAA) and chronic venous disease (CVD) belong to this group of conditions and exhibit various presentations and courses; thus, there is an urgent need for revealing new biomarkers for monitoring and potential treatment. Next-generation sequencing of mRNA allows rapid and detailed transcriptome analysis, allowing us to pinpoint the most pronounced differences between the mRNA expression profiles of vascular disease patients. Comparison of expression data of 519 DNA-repair-related genes obtained from mRNA next-generation sequencing revealed significant transcriptomic marks characterizing AAA, CVD and LEAD. Statistical, gene set enrichment analysis (GSEA), gene ontology (GO) and literature analyses were applied and highlighted many DNA repair and accompanying processes, such as cohesin functions, oxidative stress, homologous recombination, ubiquitin turnover, chromatin remodelling and DNA double-strand break repair. Surprisingly, obtained data suggest the contribution of genes engaged in the regulatory function of DNA repair as a key component that could be used to distinguish between analyzed conditions. DNA repair–related genes depicted in the presented study as dysregulated in AAA, CVD and LEAD could be utilized in the design of new biomarkers or therapies associated with these diseases.https://www.mdpi.com/1422-0067/24/1/551DNA repairlower extremity arterial diseasechronic venous diseaseabdominal aortic aneurysmgene expressionbiomarker |
| spellingShingle | Karol P. Ruszel Daniel P. Zalewski Andrzej Stępniewski Dariusz Gałkowski Jacek Bogucki Marcin Feldo Bartosz J. Płachno Janusz Kocki Anna Bogucka-Kocka Next-Generation Sequencing in the Assessment of the Transcriptomic Landscape of DNA Damage Repair Genes in Abdominal Aortic Aneurysm, Chronic Venous Disease and Lower Extremity Artery Disease International Journal of Molecular Sciences DNA repair lower extremity arterial disease chronic venous disease abdominal aortic aneurysm gene expression biomarker |
| title | Next-Generation Sequencing in the Assessment of the Transcriptomic Landscape of DNA Damage Repair Genes in Abdominal Aortic Aneurysm, Chronic Venous Disease and Lower Extremity Artery Disease |
| title_full | Next-Generation Sequencing in the Assessment of the Transcriptomic Landscape of DNA Damage Repair Genes in Abdominal Aortic Aneurysm, Chronic Venous Disease and Lower Extremity Artery Disease |
| title_fullStr | Next-Generation Sequencing in the Assessment of the Transcriptomic Landscape of DNA Damage Repair Genes in Abdominal Aortic Aneurysm, Chronic Venous Disease and Lower Extremity Artery Disease |
| title_full_unstemmed | Next-Generation Sequencing in the Assessment of the Transcriptomic Landscape of DNA Damage Repair Genes in Abdominal Aortic Aneurysm, Chronic Venous Disease and Lower Extremity Artery Disease |
| title_short | Next-Generation Sequencing in the Assessment of the Transcriptomic Landscape of DNA Damage Repair Genes in Abdominal Aortic Aneurysm, Chronic Venous Disease and Lower Extremity Artery Disease |
| title_sort | next generation sequencing in the assessment of the transcriptomic landscape of dna damage repair genes in abdominal aortic aneurysm chronic venous disease and lower extremity artery disease |
| topic | DNA repair lower extremity arterial disease chronic venous disease abdominal aortic aneurysm gene expression biomarker |
| url | https://www.mdpi.com/1422-0067/24/1/551 |
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