Dysregulation of ribosome-related genes in ankylosing spondylitis: a systems biology approach and experimental method

Abstract

Background Ankylosing spondylitis (AS) is an autoimmune rheumatic disease. Few candidate gene associations have been reported for AS and the current understanding of its pathogenesis remains still poor. Thus, the exact mechanism of AS is needed to urgently be disclosed. The purpose of this study was to identify candidate genes involving in AS disease. Methods and results GSE25101 publicly available microarray and GSE117769 RNA-seq datasets of AS patients were obtained for bioinformatics analyses. Gene set enrichment analysis showed that in the microarray dataset, the ribosome pathway was significantly up-regulated in AS compared with controls. Furthermore, some ribosomal components demonstrated overexpression in patients in the RNA-seq dataset. To confirm the findings, 20 AS patients and 20 matching controls were selected from the Rheumatology Research Center clinic, Shariati Hospital. PBMCs were separated from whole blood and RNA contents were extracted. Following the results of datasets analysis, the expression level of rRNA5.8S pseudogene, rRNA18S pseudogene, RPL23, RPL7, and RPL17 genes were measured through real-time PCR. Our findings showed dysregulation of rRNA5.8S and rRNA18S pseudogenes, and also the RPL17 gene in patients. Conclusion Considering that genes involved in ribosome biogenesis contributed to some AS-associated biological processes as well as diseases that have comorbidities with AS, our results might advance our understanding of the pathological mechanisms of ankylosing spondylitis.

The RPL4P4 Pseudogene Is a Prognostic Biomarker and Is Associated with Immune Infiltration in Glioma

“…Recent studies link ribosome protein mutations and abnormal ribosomes to poor prognosis, highlighting that ribosome protein targeted therapy is a promising treatment for cancer patients [ 11 ]. Ribosomal protein genes have the largest number of processed pseudogenes, approximately 1700; these genes include cyclophilin A, actin, keratin (keratin), GAPDH, cytochrome C (cytochrome C), and nucleophosmin [ 12 ]. There are many copies of the processed pseudogenes.…”

IDENTIFICATION OF IMMUNE RESPONSE AND RNA NETWORK OF RHEUMATOID ARTHRITIS AND MOLECULAR DOCKING OFCELASTRUS PANICULATUSAS POTENTIAL THERAPEUTIC AGENT

“…Moreover, RPS27A is responsible for the structural constituent of ribosomes, protein binding, and metal ion binding for MF. As RPS27A is a ribosomal protein, it regulates ribosome functions, especially protein synthesis and translation (Lari et al, 2021).…”

“…Therefore, dysregulation of RPS27A can cause alteration in ribosome functions, aberrant synthesis of protein, and high production of inflammatory cytokines which can eventually lead to damage in joint tissues in RA (Lari et al, 2021).…”

Exploring hub pyroptosis-related genes, molecular subtypes, and potential drugs in ankylosing spondylitis by comprehensive bioinformatics analysis and molecular docking

“…Rong et al [ 34 ] found that iron death may affect AS through potential molecular regulatory pathways. In addition, ribosome-related genes and N6-methyladenosine RNA methylation regulators were also found to be dysregulated in AS [ 35 , 36 ].…”