Cancer Genetics and Epigenetics 2024, Vol.12, No.1, 47-54 http://www.medscipublisher.com/index.php/cge 48 genetic and rare diseases provides new insights into the molecular mechanisms of these diseases, opening up the possibility of developing new treatments. Overall, the development of HTS technology has not only accelerated genomics and epigenetic research, but also provided a powerful tool for understanding the genetic and epigenetic basis of complex diseases and developing new diagnostic methods and treatment strategies. As these technologies are further refined and applied, we expect to see more significant advances in disease prevention, diagnosis and treatment in the future. 1 Application of HTS Technology in Epigenetic Research 1.1 DNA methylation analysis High-throughput sequencing (HTS) technology has become a key tool in the field of epigenetics, particularly in identifying DNA methylation sites. HTS technology is able to identify methylation sites at high resolution across the whole genome, providing unprecedented depth and detail for understanding the regulatory mechanisms of genetic information. For example, by integrating HTS techniques and bioinformatics methods, researchers have been able to reveal the role of methylation in gene silencing, X chromosome inactivation, and embryonic development. In 2023, Wei et al. found that PGC7 regulates genome-wide DNA methylation by regulating subcellular localization of DNMT1 mediated by ERK. This work reveals a new mechanism by which PGC7 regulates genome-wide DNA methylation by phosphorylating DNMT1 via ERK, which may provide new insights into the treatment of DNA-methylation-related diseases (Wei et al., 2023). In 2023, Signoretti and Gupte found that G6PD regulates genome-wide DNA methylation and gene expression in rats with thalassemia G6PD variants. This suggests that G6PD plays a role as a regulator of DNA methylation in healthy vascular tissue, a finding that contributes to understanding the role of DNA methylation in non-disease states (Signoretti and Gupte, 2023). By analyzing samples from different populations (including tobacco addicts, athletes, etc.), Chmielowiec et al. 2023 revealed methylation levels of multiple CpG islands of the DAT1 gene and found that these methylation levels differed significantly from control groups compared to tobacco addicts and athletes. This study provides new research directions to explore how DNA methylation regulates dopamine release (Chmielowiec et al., 2023). By shedding light on these complex regulatory mechanisms, these studies not only increase our understanding of fundamental biological processes, but also provide possible future therapeutic targets for abnormalities that arise in these processes. In the field of disease research, methylation is closely related to the occurrence and development of many diseases. In cancer research in particular, HTS techniques have revealed that methylation silencing of tumor suppressor genes is a common feature of many types of cancer. In breast cancer patients, for example, Azmi and Shahid's 2023 study found that hypermethylation of the BRCA1 gene is associated with silencing of gene expression, a major cause of breast cancer development. This study used sulfate sequencing technology to analyze DNA methylation status, demonstrating the importance of HTS technology in identifying and understanding the mechanisms by which tumor suppressor genes are silenced by methylation (Azmi and Shahid, 2023). In addition, cardiovascular disease studies have also shown that changes in methylation of specific genes are associated with an increased risk of the disease. Ridha et al. 2023 used HTS technology, specifically multiple methylated DNA immunoprecipitation sequencing (Mx-MeDIP-Seq), to study changes in DNA methylation in low-volume DNA samples. This technique enables the analysis of methylation status in many DNA samples, revealing the critical role of methylation in the development of cardiovascular diseases, especially abnormal methylation outcomes in the regulation of gene expression, such as cancer, autoimmune diseases, atherosclerosis, and cardiovascular diseases (Ridha et al., 2023).
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