"EPIGENETIC PROFILING OF HAEMORRHOIDAL TISSUES REVEALS KEY REGULATORY RNAS AND GENE EXPRESSION SIGNATURES"
Main Article Content
Keywords
Haemorrhoids, Epigenetics, RNA-Seq, Non-coding RNA, MicroRNA, VEGF, MMP9, COX-2 cluster, Gene expression, Vascular remodelling, Transcriptomics, RNA extraction, Anal disorders.
Abstract
Haemorrhoids are a prevalent and recurrent proctologic condition characterized by inflammation, neovascularization, and often accompanied by enema. Despite their common occurrence, the underlying pathology remains inadequately understood. This study investigates the epigenetic factors involved in the development of haemorrhoids through a comprehensive analysis of RNA transcript differences between haemorrhoidal and normal tissues. Using RNA sequencing (RNA-Seq), we examined tissue samples from 18 patients diagnosed with grade II and III haemorrhoids. Our findings highlight the differential expression of key molecular players, including Vascular Endothelial Growth Factor (VEGF), Matrix Metalloproteinase 9 (MMP9), and specific microRNAs within the COX-2 imprinted cluster. These results suggest a multifactorial pathway contributing to the pathogenesis of haemorrhoids, providing potential targets for future therapeutic intervention. This study contributes to a deeper understanding of the molecular underpinnings of haemorrhoids and emphasizes the importance of epigenetic factors in their development.
References
2. Sun, Z., Migaly, J. (2016). Review of hemorrhoid disease: Presentation and management. Clinics in Colon and Rectal Surgery, 29(1), 22–29. https://doi.org/10.1055/s-0035-1568144.
3. Esteller, M. (2011). Non-coding RNAs in human disease. Nature Reviews Genetics, 12, 861–874. https://doi.org/10.1038/nrg3074.
4. Bartel, D.P. (2004). MicroRNAs: Genomics, biogenesis, mechanism, and function. Cell, 116(2), 281–297. https://doi.org/10.1016/S0092-8674(04)00045-5.
5. Calin, G.A., & Croce, C.M. (2006). MicroRNA signatures in human cancers. Nature Reviews Cancer, 6, 857–866. https://doi.org/10.1038/nrc1997.
6. Nagy, N., & Sipos, F. (2017). Molecular and epigenetic pathogenesis of hemorrhoids. Digestive Diseases and Sciences, 62, 1212–1219. https://doi.org/10.1007/s10620-017-4485-2.
7. Chomczynski, P., & Sacchi, N. (2006). The single-step method of RNA isolation by acid guanidinium thiocyanate–phenol–chloroform extraction: Twenty-something years on. Nature Protocols, 1, 581–585. https://doi.org/10.1038/nprot.2006.83.
8. Arner, E., & Sandelin, A. (2010). Determinants of enhancer and promoter activities of regulatory elements. Nature Reviews Genetics, 11, 427–437. https://doi.org/10.1038/nrg2793.
9. Lohsiriwat V. Hemorrhoids: From basic pathophysiology to clinical management. World Journal of Gastroenterology. 2012;18(17):2009–2017. doi:10.3748/wjg.v18.i17.2009.
10. Sun Z, Migaly J. Review of hemorrhoid disease: Presentation and management. Clinics in Colon and Rectal Surgery. 2016;29(1):22–29. doi:10.1055/s-0035-1568144.
11. Esteller M. Non-coding RNAs in human disease. Nature Reviews Genetics. 2011;12:861–874. doi:10.1038/nrg3074.
12. Bartel DP. MicroRNAs: Genomics, biogenesis, mechanism, and function. Cell. 2004;116(2):281–297. doi:10.1016/S0092-8674(04)00045-5.
13. Calin GA, Croce CM. MicroRNA signatures in human cancers. Nature Reviews Cancer. 2006;6:857–866. doi:10.1038/nrc1997.
14. Nagy N, Sipos F. Molecular and epigenetic pathogenesis of hemorrhoids. Digestive Diseases and Sciences. 2017;62(5):1212–1219. doi:10.1007/s10620-017-4485-2.
15. Chomczynski P, Sacchi N. The single-step method of RNA isolation by acid guanidinium thiocyanate–phenol–chloroform extraction: twenty-something years on. Nature Protocols. 2006;1(2):581–585. doi:10.1038/nprot.2006.83
16. Sharma PK, Singh SK, Pandey R, et al. Differential microRNA expression in hemorrhoidal disease: a transcriptomic analysis. Proctology. 2024;15(1):45–53.
17. Schmittgen TD, Livak KJ. Analyzing real-time PCR data by the comparative C(T) method. Nature Protocols. 2008;3(6):1101–1108. doi:10.1038/nprot.2008.73.
18. Kanehisa M, Goto S. KEGG: Kyoto Encyclopedia of Genes and Genomes. Nucleic Acids Research. 2000;28(1):27–30. doi:10.1093/nar/28.1.27.
Article Sidebar
Article Details
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
All articles published in JPTCP are licensed under Copyright Creative Commons Attribution-NonCommercial 4.0 International License.
Dr Rashmi Gupta
Associate professor Department of shalya Tantra Faculty of Ayurveda Institute of Medical sciences, Banaras Hindu University, Varanasi
Dr. Anil Kumar
Assistant Professor, Department of Shalya Tantra, Faculty of Ayurveda, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India