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Exploration of Pathogenesis of Aortic Dissection through Whole Genome DNA Methylation
Vol 38, Issue 5, 2024
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Abstract
Background: Aortic Dissection (AD) is the most common aortic emergency, and its exact etiology is still not fully understood. With advancements in molecular biology, a more profound understanding of the causes of AD will result in more significant breakthroughs in prevention and treatment. This work aimed to explore the role of genome-wide Deoxyribonucleic acid (DNA) methylation in exploring the pathogenesis and outcome mechanism of AD from the perspective of molecular biology. Methods: Aortic tissue was collected from 8 AD patients and 8 non-AD volunteers to analyze DNA methylation characteristics in AD patients through the whole genome DNA methylation method. Based on bioinformatics, epigenetic characteristics during AD were studied. Finally, the accuracy of the chip results was verified by pyrosequencing. Results: A total of 1563 sites were counted. Compared with the normal group, there were 942 methylation upregulated sites and 621 downregulated sites in the AD group. Differential methylation sites detected by the chip were distributed in Transmission Start Site (TSS) 1500, 5′ Untranslated Region (UTR), Genebody, 3′UTR, Cytosine, Phosphoric acid, and Guanine (CpG) island, and off-island CpG sites, mainly located in Genebody. After Gene Ontology (GO) enhancement analysis and pathway analysis of biological pathways, it was found that some methylated genes were closely related to cell differentiation, growth, maturation, aging, and death, affecting AD development. Conclusion: Whole genome DNA methylation plays a positive role in exploring the pathogenesis and outcome mechanism of AD from molecular biology. This helps explore new diagnostic markers and intervention targets for AD and improve the clinical diagnosis and treatment of AD in the future.
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Copyright (c) 2024 Qin Jin, Jie Zhang, Lan Shen, Jianqi Ni, Guoliang Wang, Liu Xu
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Medical Genetics, University of Torino Medical School, Italy

Department of Biomedical, Surgical and Dental Sciences, University of Milan, Italy