Comprehensive bioinformatics analysis of lncRNA regulation and screening for pathogenic genes in <i>NF2</i>-related schwannomatosis

Abstract Objectives NF2 -related Schwannomatosis ( NF2 -SWN) is an autosomal dominant disease with full penetrance. Increasing data shows that long non-coding RNAs (lncRNA) can act as competitive endogenous RNAs (ceRNA), regulating target gene expression. This study aims to investigate lncRNAs in NF2 -SWN that may be involved in regulating NF2 pathogenic genes. Methods Data were collected from three patients with NF2 -SWN, including medical records, physical examination, imaging, pathology, and RNA from the tumor and adjacent tissues. differentially expressed genes (DEGs) between the two groups were screened by conducting gene differential analysis on the sequenced data. Next, GO &amp; KEGG enrichment analysis was performed on DEGs, and an association network between lncRNA and NF2 was established to identify regulatory lncRNA. Finally, qRT-PCR was used to substantiate the expression patterns of critical lncRNAs and NF2 in NF2 -SWN. Results Sequencing revealed 6433 DEGs involved in key biological processes and pathways, such as axon guidance, intracellular signal transduction, cell migration, phosphorylation, cell adhesion molecules, taste transduction, axon guidance, and ErbB signaling pathways, etc. The ceRNA correlation network identified four lncRNAs ( CADM3-AS1 , MTMR9LP , LOC101929536 , PRDM16-DT ) that may regulate the NF2 gene. As expected, qRT-PCR results revealed that compared with the control group, the expression levels of L0C10929536 and PRDM16-DT in the tumor group were significantly increased. In contrast, the expression levels of MTMR9LP and CADM3-AS1 genes were decreased. Conclusions Four identified lncRNAs could be crucial for NF2 -SWN development, potentially serving as diagnosis biomarkers or therapeutic targets. This study contributes to the understanding of NF2 -SWN’s molecular mechanism.