Gene expression dysregulated of Long Chain Non-coding RNA in patients with idiopathic achalasia: New Insight into Pathogenesis

Abstract

Background: Idiopathic achalasia is a primary disorder of esophageal motility characterized by the absence of lower esophageal sphincter (LES). However, the pathogenesis of idiopathic achalasia remains unclear. To further understand the pathogenesis of idiopathic achalasia, we conducted lncRNA and mRNA microarray analyses.Methods: LES specimens used for microarray were collected from five idiopathic achalasia and four control patients undergoing total gastrectomy for gastric cancer. Potential target genes with significantly changed lncRNA and mRNA were predicted using cis/trans-regulatory algorithms, followed by Gene Ontology (GO) analysis and KEGG pathway enrichment analysis to further understand the biophysical effect.Results: In this study, 3136 significantly upregulated and 3997 significantly downregulated mRNAs were identified, along with 6892 significantly dysregulated lncRNAs (4900 increased and 1992 decreased lncRNAs). Biophysical function analysis of these RNAs revealed that the cell adhesion molecule (CAM) pathway was a common pathway. The predicted lncRNA targets of NRXN1 (Down FC: 9.07), NTNG2 (UP FC: 2.75), CADM1 (Down FC: 2.26), NLGN1 (Down FC: 4.60), NEGR1 (Down FC: 2.335), CD22 (Down FC: 5.62), HLA-DQB1 (Down FC: 5.06), and HLA-DOA (Down FC: 2.31) were inputted in this pathway, which were mainly located in the synapse part of the neural system and immune system. Conclusions: Our study demonstrates the lncRNAs and corresponding mRNAs that play critical roles in idiopathic achalasia. Our findings provide new insights into the pathogenesis of this disorder.