Cancer Genetics and Epigenetics 2024, Vol.12, No.1, 47-54 http://www.medscipublisher.com/index.php/cge 51 The study reveals a more complex histone acetyltransferase (HAT) pattern in stem cells than previously thought, suggesting that H3K18ac and TFIIIC may play a role in regulating "stem-cell" genes, as well as genes associated with neural differentiation. Zhao et al. (2023) through Chromatin Immunoprecipitation with high-throughput sequencing (ChIP-seq) technology, Two important histone modifications, H3K4me3 and H3K27me3, were screened in an invasive pest. The results showed that H3K4me3 was associated with gene activation, while H3K27me3 was mainly associated with transcriptional inhibition. This study provides a basis for understanding the role of histone modifications in cancer cells. Lin et al. (2023) used CUT&Tag technology to map genome-wide H3K27me3 and H3K27ac placeholder maps in the neural tissue of a Benz [a] Pyrene (BaP) -induced neural tube defect (NTDs) mouse embryo model. Further RNA sequencing analysis revealed the regulatory effect of histone modification on gene expression. These findings provide important clues to understanding the role of histone modification in cancer cells. These studies demonstrate the importance of HTS techniques in studying histone modification patterns in cancer cells, particularly the abnormal increase of H3K27me3 and its association with dysregulation of gene expression and the development of fistula. A deeper understanding of these epigenetic modifications could provide new strategies and targets for cancer diagnosis and treatment. 2.1.3 Epigenetic-based treatment strategies With the application of HTS technology in cancer research, epigenetic-based treatment strategies are becoming a reality. For example, drugs developed to target specific epigenetic changes, such as DNA methylation and histone modification, have entered clinical trials, showing great potential to treat cancer (Jung et al., 2023; Shoaib et al., 2023; Zhang et al., 2023). 2.2 Hereditary and rare diseases HTS technology also plays an important role in the diagnosis and treatment of genetic and rare diseases. 2.2.1 Reveal epigenetic mechanisms of inherited diseases HTS technology allows researchers to understand epigenetic mechanisms of genetic diseases at the molecular level, such as methylation changes in specific genes that are associated with an increased risk of disease. This opens up the possibility of accurate diagnosis and early intervention. A 2023 study by Noguer et al., using whole genome bisulfite sequencing (WGBS), found that 4,167 potential marker regions showed differential methylation signals in colorectal cancer (CRC), advanced adenoma (AA), and corresponding normal tissue (NAT) samples. Suggests that alterations in methylation in these regions are associated with an increased risk of disease (Noguer et al., 2023). The study by Koowattanasuchat etc in 2023, developed a Methylscape sensing platform based on the methylation-dependent DNA dissolution principle to observe the dispersion of Cyst/AuNPs adsorbed on these DNA aggregates in a MgCl2 solution. Methylation configurations of normal and cancer DNA can be distinguished, providing a new method for early detection of cancer (Koowattanasuchat et al., 2023). A 2023 study by Visvanathan et al validated the clinical value of liquid biopsie-breast cancer methylation (LBx-BCM) prototype testing for early assessment of disease progression in metastatic breast cancer (MBC), showing the potential of methylation-based testing (Visvanathan et al., 2023). These studies show that by analyzing methylation changes in specific genes, important biomarkers associated with increased disease risk can be revealed, providing new avenues for accurate diagnosis and early intervention in diseases such as cancer.
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