Recent advancements in transcriptomics and its application in basic medical and clinical sciences

Paper Details

Review Paper 05/09/2024
Views (28) Download (5)
current_issue_feature_image
publication_file

Recent advancements in transcriptomics and its application in basic medical and clinical sciences

Shafee Ur Rehman, Kudaibergen Osmonaliev, Dawood Khan, Lobzova Aleksandra, Atta Ur Rahman, Inamur Rehman
Int. J. Biosci.25( 3), 40-57, September 2024.
Certificate: IJB 2024 [Generate Certificate]

Abstract

Transcriptomics or transcriptome profiling emerged as one of the major powerful approaches in the science of medicine and clinical practices. Over the last decades, the application of transcriptome has been significantly applied in oncology, cardiology, gastro infection, and pathogenic diseases. Advancements in sequencing technologies like RNA sequencing, biomarkers, gene signature, expression profiling of genes, and their aberrant expression affect disorders. Further, the application of transcriptomics also includes the discoveries of molecular targeted therapies for numerous disorders. The contribution of transcriptomics in medicine and clinical sciences has revolutionized the understanding of the nature of the disease, biological and molecular pathways, and insight into personalized medicine and therapies for many disorders.   This essay could explore the current state of transcriptome technology in medicine and clinical sciences. It could discuss the techniques, such as RNA sequencing, and their potential applications for understanding diseases and developing new treatments. Additionally, the essay could delve into the ethical considerations surrounding transcriptome technology and its use in research and clinical practice. Furthermore, advancement in transcriptomics application may allow standardization and cost reduction analysis which should make transcriptomics one of the significant contemporary in the field of medicine and clinical sciences.

VIEWS 32

Acharya P, Parkins S, Tranter M. 2024. RNA binding proteins as mediators of pathological cardiac remodeling. Frontiers in Cell and Developmental Biology 12, 1368097.

Addissouky TA, Ali MM, Sayed IE, Wang Y. 2024. Emerging advanced approaches for diagnosis and inhibition of liver fibrogenesis. The Egyptian Journal of Internal Medicine 36(1), 19.

Alicic RZ, Rooney MT, Tuttle KR. 2017. Diabetic kidney disease: challenges, progress, and possibilities. Clinical Journal of the American Society of Nephrology 12(12), 2032-2045.

Anand U, Dey A, Chandel AK, Sanyal R, Mishra A, Pandey DK, De Falco V, Upadhyay A, Kandimalla R, Chaudhary A, Dhanjal JK. 2023. Cancer chemotherapy and beyond: current status, drug candidates, associated risks and progress in targeted therapeutics. Genes & Diseases 10(4), 1367-1401.

Bai H, Xian N, Zhao F, Zhou Y, Qin S. 2024. The dual role of SUSD2 in cancer development. European Journal of Pharmacology 977, 176754.

Bai YM, Yang F, Luo P, Xie LL, Chen JH, Guan YD, Zhou HC, Xu TF, Hao HW, Chen B, Zhao JH. 2023. Single-cell transcriptomic dissection of the cellular and molecular events underlying the triclosan-induced liver fibrosis in mice. Military Medical Research 10(1), 1-22.

Baliña-Sánchez C, Aguilera Y, Adán N, Sierra-Párraga JM, Olmedo-Moreno L, Panadero-Morón C, Cabello-Laureano R, Márquez-Vega C, Martín-Montalvo A, Capilla-González V. 2023. Generation of mesenchymal stromal cells from urine-derived iPSCs of pediatric brain tumor patients. Frontiers in Immunology 14, 1022676.

Bamberg M. 2023. RNA-based identification of forensically relevant body fluids/tissues–novel strategies and methods for casework implementation. (Doctoral dissertation, Universität Ulm).

Bansal MP. 2023. Cancer Metastasis, ROS/Redox Signaling, and PCD Resistance/Redox Metabolism. In Redox Regulation and Therapeutic Approaches in Cancer. Singapore: Springer Nature Singapore 173-206.

Barthel FP, Johnson KC, Varn FS, Moskalik AD, Tanner G, Kocakavuk E, Anderson KJ, Abiola O, Aldape K, Alfaro KD, Alpar D. 2019. Longitudinal molecular trajectories of diffuse glioma in adults. Nature 576, 112–120.

Boccacino JM, dos Santos Peixoto R, Fernandes CF, Cangiano G, Sola PR, Coelho BP, Prado MB, Melo-Escobar MI, de Sousa BP, Ayyadhury S, Bader GD. 2024. Integrated transcriptomics uncovers an enhanced association between the prion protein gene expression and vesicle dynamics signatures in glioblastomas. BMC Cancer 24(1), 199.

Brokowska J, Gaffke L, Pierzynowska K, Cyske Z, Węgrzyn G. 2024. Cell cycle disturbances in mucopolysaccharidoses: Transcriptomic and experimental studies on cellular models. Experimental Biology and Medicine 247, 1639–1649.

Callier SL, Payne Jr PW, Akinniyi D, McPartland K, Richardson TL, Rothstein MA, Royal CD. 2022. Cardiologists’ perspectives on BiDil and the use of race in drug prescribing. Journal of Racial and Ethnic Health Disparities 9(6), 2146-2156.

Cao J, Li C, Cui Z, Deng S, Lei T, Liu W, Yang H, Chen P. 2024. Spatial Transcriptomics: A Powerful Tool in Disease Understanding and Drug Discovery. Theranostics 14(7), 2946.

Cheng XY, Zhang YS, Cao ZF. 2023. Applications and advances of spatial transcriptomics in oncology research. Zhonghua bing li xue za zhi Chinese Journal of Pathology 52(6), 643-646.

Draaisma K, Chatzipli A, Taphoorn M, Kerkhof M, Weyerbrock A, Sanson M, Hoeben A, Lukacova S, Lombardi G, Leenstra S, Hanse M. 2020. Molecular evolution of IDH wild-type glioblastomas treated with standard of care affects survival and design of precision medicine trials: a report from the EORTC 1542 study. Journal of Clinical Oncology 38, 81–99.

Drakos SG, Badolia R, Makaju A, Kyriakopoulos CP, Wever-Pinzon O, Tracy CM, Bakhtina A, Bia R, Parnell T, Taleb I, Ramadurai DK. 2023. Distinct transcriptomic and proteomic profile specifies patients who have heart failure with potential of myocardial recovery on mechanical unloading and circulatory support. Circulation 147(5), 409-424.

Fan J, Slowikowski K, Zhang F. 2020. Single-cell transcriptomics in cancer: computational challenges and opportunities. Experimental & Molecular Medicine 52, 1452–1465.

Fan Y, Andrusivová Ž, Wu Y, Chai C, Larsson L, He M, Luo L, Lundeberg J, Wang B. 2023. Expansion spatial transcriptomics. Nature Methods 20(8), 1179-82.

Glodzik D, Selenica P, Rogge RA, Silverman IM, Mandelker D, Harris S, Zhao J, Zinda M, Veloso A, Malani N, Riaz N. 2023. Detection of biallelic loss of DNA repair genes in formalin-fixed, paraffin-embedded tumor samples using a novel tumor-only sequencing panel. The Journal of Molecular Diagnostics 25(5), 295-310.

Herwanto V, Tang B, Wang Y, Shojaei M, Nalos M, Shetty A, Lai K, McLean AS, Schughart K. 2021. Blood transcriptome analysis of patients with uncomplicated bacterial infection and sepsis. BMC Research Notes 14, 1-3.

Hibi M, Katada S, Kawakami A, Bito K, Ohtsuka M, Sugitani K, Muliandi A, Yamanaka N, Hasumura T, Ando Y, Fushimi T. 2023. Assessment of Multidimensional Health Care Parameters Among Adults in Japan for Developing a Virtual Human Generative Model: Protocol for a Cross-sectional Study. JMIR Research Protocols 12(1), e47024.

Hoogstrate Y, Draaisma K, Ghisai SA, van Hijfte L, Barin N, de Heer I, Coppieters W, van den Bosch TP, Bolleboom A, Gao Z, Vincent AJ. 2023. Transcriptome analysis reveals tumor microenvironment changes in glioblastoma. Cancer Cell 41(4), 678-92.

Imle R, Blosel D, Kommoss F, Zhao E, Autry R, Blume C, Lupar D, Schmitt L, Winter C, Wagner L, Placke S. 2024. Somatic gene delivery for flexible in vivo modeling of high-risk sarcoma. bioRxiv 2024, 2024-01.

Jang MJ, Coughlin GM, Jackson CR, Chen X, Chuapoco MR, Vendemiatti JL, Wang AZ, Gradinaru V. 2023. Spatial transcriptomics for profiling the tropism of viral vectors in tissues. Nature Biotechnology 41(9), 1272-86.

Khodadadian A, Darzi S, Haghi-Daredeh S, Sadat Eshaghi F, Babakhanzadeh E, Mirabutalebi SH, Nazari M. 2020. Genomics and transcriptomics: the powerful technologies in precision medicine. International Journal of General Medicine 17, 627-40.

Kraboth Z, Kalman B. 2020. Longitudinal characteristics of glioblastoma in genome-wide studies. Pathology and Oncology Research 26, 2035–2047.

Kretova M, Selicky T, Cipakova I, Cipak L. 2023. Regulation of pre-mRNA splicing: indispensable role of post-translational modifications of splicing factors. Life 13(3), 604.

LaRossa RA. 2013. Transcriptome, Editor(s): Stanley Maloy, Kelly Hughes, Brenner’s Encyclopedia of Genetics (Second Edition). Academic Press, 101-103.

Li H, Wang X, Yang Q, Cheng L, Zeng HL. 2023. Identification of iron metabolism-related genes as diagnostic signatures in sepsis by blood transcriptomic analysis. Open Life Sciences 18(1), 20220549.

Li H, Zhou J, Li Z, Chen S, Liao X, Zhang B, Zhang R, Wang Y, Sun S, Gao X. 2023. A comprehensive benchmarking with practical guidelines for cellular deconvolution of spatial transcriptomics. Nature Communication 14(1), 1548.

Long X, Yuan X, Du J. 2023. Single-cell and spatial transcriptomics: Advances in heart development and disease applications. Computational and Structural Biotechnology Journal 21, 2717-31.

Ludwig K, Wu Z, Bardai G, Mason P, Ward LM, Moffatt P, Rauch F. 2023. RNA sequencing of urine‐derived cells for the characterization and diagnosis of osteogenesis imperfecta. Journal of Bone and Mineral Research 38(8), 1125-34.

Magro D, Venezia M, Balistreri CR. 2024. The omics technologies and liquid biopsies: advantages, limitations, applications. Medicine in Omics 21, 100039.

Marasco LE, Kornblihtt AR. 2023. The physiology of alternative splicing. Nature Reviews Molecular Cell Biology 24(4), 242-54.

Melosky B, Vincent MD, McGuire AL, Brade AM, Chu Q, Cheema P, Martins I, Spicer JD, Snow S, Juergens RA. 2024. Modern era systemic therapies: expanding concepts of cure in early and locally advanced non‐small cell lung cancer. International Journal of Cancer 155(6), 963-78.

Miranda AM, Janbandhu V, Maatz H, Kanemaru K, Cranley J, Teichmann SA, Hübner N, Schneider MD, Harvey RP, Noseda M. 2023. Single-cell transcriptomics for the assessment of cardiac disease. Nature Reviews Cardiology 20(5), 289-308.

Mohr AE, Ortega-Santos CP, Whisner CM, Klein-Seetharaman J, Jasbi P. 2024. Navigating challenges and opportunities in multi-omics integration for personalized healthcare. Biomedicines 12(7), 1496.

Moufarrej MN, Quake SR. 2023. An inexpensive semi-automated sample processing pipeline for cell-free RNA extraction. Nature Protocols 18(9), 2772-93.

Mundi PS, Dela Cruz FS, Ortiz MV, Grunn A, Diolaiti D, Alvarez MJ, Kung AL, Califano A. 2023. Evaluation of a transcriptomics-based precision oncology platform for patient-therapy alignment in treatment resistant malignancies. Cancer Research 83(7_Supplement), 849.

Ocansey DK, Qian F, Cai P, Ocansey S, Amoah S, Qian Y, Mao F. 2024. Current evidence and therapeutic implication of PANoptosis in cancer. Theranostics 14(2), 640.

Okamura K, Dummer P, Kopp J, Qiu L, Levi M, Faubel S, Blaine J. 2013. Endocytosis of albumin by podocytes elicits an inflammatory response and induces apoptotic cell death. PloS One 8(1), e54817.

Pais RJ, Lopes F, Parreira I, Silva M, Silva M, Moutinho MG. 2023. Predicting cancer prognostics from tumour transcriptomics using an auto machine learning approach. In Medical Sciences Forum 22(1), 6.

Parola M, Pinzani M. 2024. Invited review: liver fibrosis in NAFLD/NASH: from pathophysiology towards diagnostic and therapeutic strategies. Molecular Aspects of Medicine 95, 101231.

Peng L, Wang C, Yu S, Li Q, Wu G, Lai W, Min J, Chen G. 2024. Dysregulated lipid metabolism is associated with kidney allograft fibrosis. Lipids in Health and Disease 23(1), 37.

Portokallidou K, Dovrolis N, Ragia G, Atzemian N, Kolios G, Manolopoulos VG. 2023. Multi-omics integration to identify the genetic expression and protein signature of dilated and ischemic cardiomyopathy. Frontiers in Cardiovascular Medicine 10, 1115623.

Putman MS, Norris AW, Hull RL, Rickels MR, Sussel L, Blackman SM, Chan CL, Ode KL, Daley T, Stecenko AA, Moran A. 2023. Cystic fibrosis–related diabetes workshop: research priorities spanning disease pathophysiology, diagnosis, and outcomes. Diabetes Care 46(6), 1112-23.

Sabouri M, Dogonchi AF, Shafiei M, Tehrani DS. 2024. Survival rate of patient with glioblastoma: a population-based study. Egyptian Journal of Neurosurgery 39(1), 1-9.

Sadowski K, Jażdżewska A, Kozłowski J, Zacny A, Lorenc T, Olejarz W. 2024. Revolutionizing glioblastoma treatment: a comprehensive overview of modern therapeutic approaches. International Journal of Molecular Sciences 25(11), 5774.

Sakairi T, Abe Y, Kajiyama H, Bartlett LD, Howard LV, Jat PS, Kopp JB. 2010. Conditionally immortalized human podocyte cell lines established from urine. American Journal of Physiology-Renal Physiology 298(3), F557-67.

Sakthikumar S, Roy A, Haseeb L, Pettersson ME, Sundström E, Marinescu VD, Lindblad-Toh K, Forsberg-Nilsson K. 2020. Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes. Genome Biology 21, 1-22.

Schmidt M, Hopp L, Arakelyan A, Kirsten H, Engel C, Wirkner K, Krohn K, Burkhardt R, Thiery J, Loeffler M, Loeffler-Wirth H. 2020. The human blood transcriptome in a large population cohort and its relation to aging and health. Frontiers in Big Data 3, 548873.

Schmøkel SS, Nordentoft I, Lindskrog SV, Lamy P, Knudsen M, Jensen JB, Dyrskjøt L. 2023. Improved protocol for single-nucleus RNA-sequencing of frozen human bladder tumor biopsies. Nucleus 14(1), 2186686.

Sendinc E, Shi Y. 2023. RNA m6A methylation across the transcriptome. Molecular Cell 83(3), 428-41.

Shi X, Yu Z, Ren P, Dong X, Ding X, Song J, Zhang J, Li T, Wang C. 2023. HUSCH: an integrated single-cell transcriptome atlas for human tissue gene expression visualization and analyses. Nucleic Acids Research 51(D1), 1029-37.

Shimizu K, Kikuta J, Ohta Y, Uchida Y, Miyamoto Y, Morimoto A, Yari S, Sato T, Kamakura T, Oshima K, Imai R. 2023. Single-cell transcriptomics of human cholesteatoma identifies an activin A-producing osteoclastogenic fibroblast subset inducing bone destruction. Nature Communications 14(1), 4417.

Si S, Liu H, Xu L, Zhan S. 2024. Identification of novel therapeutic targets for chronic kidney disease and kidney function by integrating multi-omics proteome with transcriptome. Genome Medicine 16(1), 84.

Singh K, Sethi P, Datta S, Chaudhary JS, Kumar S, Jain D, Gupta JK, Kumar S, Guru A, Panda SP. 2024. Advances in gene therapy approaches targeting neuro-inflammation in neurodegenerative diseases. Ageing Research Reviews 8, 102321.

Stupp R, Mason WP, Van Den Bent MJ, Weller M, Fisher B, Taphoorn MJ, Belanger K, Brandes AA, Marosi C, Bogdahn U, Curschmann J. 2005. Radiotherapy plus concomitant and adjuvant temozolomide for glioblastoma. New England Journal of Medicine 352(10), 987-96.

Sweet ME, Cocciolo A, Slavov D, Jones KL, Sweet JR, Graw SL, Reece TB, Ambardekar AV, Bristow MR, Mestroni L, Taylor MR. 2018. Transcriptome analysis of human heart failure reveals dysregulated cell adhesion in dilated cardiomyopathy and activated immune pathways in ischemic heart failure. BMC Genomics 19, 1-4.

Świątek W, Kłodziński O, Ciesielski M, Adamkiewicz Z, Podolak M, Mozdziak PE, Kranc W. 2024. Glioblastoma: A molecular insight into current discoveries and treatment directions. Medical Journal of Cell Biology 12(1), 1-20.

Tao L, Zhu Y, Liu J. 2023. Identification of new co-diagnostic genes for sepsis and metabolic syndrome using single-cell data analysis and machine learning algorithms. Frontiers in Genetics 14, 1129476.

Thomas MC, Brownlee M, Susztak K, Sharma K, Jandeleit-Dahm KA, Zoungas S, Rossing P, Groop PH, Cooper ME. 2015. Diabetic kidney disease. Nature Reviews Disease Primers 1(1), 1-20.

Tian L, Chen F, Macosko EZ. 2023. The expanding vistas of spatial transcriptomics. Nature Biotechnology 41(6), 773-82.

Virtuoso A, D’Amico G, Scalia F, De Luca C, Papa M, Maugeri G, D’Agata V, Caruso Bavisotto C, D’Amico AG. 2024. The interplay between glioblastoma cells and tumor microenvironment: New perspectives for early diagnosis and targeted cancer therapy. Brain Sciences 14(4), 331.

Wang C, Li L, Wang F, Li X, Sun J, Li X, Lei T, Huang Q, Zhang G, Wang H, Li D. 2023. Single‐cell transcriptomics dissects epithelial heterogeneity in HPV+ cervical adenocarcinoma. Journal of Medical Virology 95(2), e28480.

Wang Q, Hu B, Hu X, Kim H, Squatrito M, Scarpace L, DeCarvalho AC, Lyu S, Li P, Li Y, Barthel F. 2017. Tumor evolution of glioma-intrinsic gene expression subtypes associates with immunological changes in the microenvironment. Cancer Cell 32(1), 42-56.

Wang R, Peng G, Tam PP, Jing N. 2023. Integration of computational analysis and spatial transcriptomics in single-cell studies. Genomics, Proteomics & Bioinformatics 21(1), 13-23.

Wang S, Song A, Xie J, Wang YY, Wang WD, Zhang MJ, Wu ZZ, Yang QC, Li H, Zhang J, Sun ZJ. 2024. Fn-OMV potentiates ZBP1-mediated PANoptosis triggered by oncolytic HSV-1 to fuel antitumor immunity. Nature Communications 15(1), 3669.

Wang T, Wang L, Zhang L, Long Y, Zhang Y, Hou Z. 2023. Single-cell RNA sequencing in orthopedic research. Bone Research 11(1), 10.

Wang X, Wu P, Fu Y, Yang R, Li C, Chen Y, He A, Chen X, Ma D, Ma J, Zhang T. 2024. The circular RNA expression profile of human auricle cartilage and the role of circCOL1A2 in isolated microtia. Cellular Signalling 115, 111017.

Weller M, van den Bent M, Preusser M, Le Rhun E, Tonn JC, Minniti G, Bendszus M, Balana C, Chinot O, Dirven L, French P. 2021. EANO guidelines on the diagnosis and treatment of diffuse gliomas of adulthood. Nature Reviews Clinical Oncology 18(3), 170-86.

Wheeler DA, Wang L. 2013. From human genome to cancer genome: The first decade. Genome Research 23, 1054-1062.

Woroniecka KI, Park AS, Mohtat D, Thomas DB, Pullman JM, Susztak K. 2011. Transcriptome analysis of human diabetic kidney disease. Diabetes 60(9), 2354-69.

Wu PY, Chandramohan R, Phan JH, Mahle WT, Gaynor JW, Maher KO, Wang MD. 2014. Cardiovascular transcriptomics and epigenomics using next-generation sequencing: challenges, progress, and opportunities. Circulation: Cardiovascular Genetics 7(5), 701-10.

Xiong Y. 2023. The emerging role of PANoptosis in cancer treatment. Biomedicine & Pharmacotherapy 168, 115696.

Yankee TN, Oh S, Winchester EW, Wilderman A, Robinson K, Gordon T, Rosenfeld JA, VanOudenhove J, Scott DA, Leslie EJ, Cotney J. 2023. Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes. Nature Communications 14(1), 4623.

Yoshida T, Latt KZ, Rosenberg AZ, Shrivastav S, Heymann J, Halushka MK, Winkler CA, Kopp JB. 2023. Transcriptomic analysis of human podocytes in vitro: effects of differentiation and APOL1 genotype. Kidney International Reports 8(1), 164-78.

Zhang M, Bi X. 2024. Heat shock proteins and breast cancer. International Journal of Molecular Sciences 25(2), 876.

Zhang X, Chao P, Zhang L, Xu L, Cui X, Wang S, Wusiman M, Jiang H, Lu C. 2023. Single-cell RNA and transcriptome sequencing profiles identify immune-associated key genes in the development of diabetic kidney disease. Frontiers in Immunology 14, 1030198.

Zhang Y, Zhu G, Tong Q, Ni J, Fang X, Chen X, Wang Z. 2023. Effects of organic and inorganic nitrogen sources on the transcriptome of gellan gum biosynthesis by Sphingomonas paucimobilis. Journal of Applied Microbiology 134(4), lxad081.

Zhao S, Zhu K, Li X, Zhong X, Zhao Y, Le Z, Liu Z, Xiao Y, Lai D, Jiao N, Shu Q. 2024. Co-expression and interaction network analysis reveals dysregulated neutrophil and T-cell activation as the core mechanism associated with septic shock. Frontiers in Genetics 14, 1132361.

Zhao Y, Wang T, Liu Z, Ke Y, Li R, Chen H, You Y, Wu G, Cao S, Du Z, Bai F. 2023. Single-cell transcriptomics of immune cells in lymph nodes reveals their composition and alterations in functional dynamics during the early stages of bubonic plague. Science China Life Sciences 66(1), 110-26.

Zhao Y, Yakufu M, Ma C, Wang B, Yang J, Hu J. 2023. Transcriptomics reveal a molecular signature in the progression of nonalcoholic steatohepatitis and identifies PAI‑1 and MMP‑9 as biomarkers in in vivo and in vitro studies. Molecular Medicine Reports 29(1), 15.