Objective To analyze the change of expression profiles of circular RNA (circRNA) in plasma of children with pediatric type 2 spinal muscular atrophy (SMA).

Methods From September 2021 to March 2022, five hospitalized children with pediatric type 2 SMA in the Department of Neurology of Anhui Provincial Children's Hospital were selected as SMA group, and five healthy controls in the same period were selected as control group. High throughput sequencing technology was used to detect and screen the differentially expressed circRNA in plasma, and bioinformatics was used for gene ontology (GO) annotation, the Kyoto Encyclopedia of Genes and Genomes (KEGG) and Reactome pathway enrichment analyses. Online database was used to predict the microRNAs (miRNA) that circRNA may target.

Results Compared with the control group, a total of 136 circRNA were significantly differentially expressed in the plasma of children with SMA (P < 0.05, fold change≥1.5), including 55 up-regulated and 81 down-regulated circRNA. Bioinformatics analysis revealed that pathways such as homologous recombination repair and DNA replication play important roles in the occurrence and development of SMA. TargetScan and miRanda software were used to predict the relationship between differentially expressed circRNA and miRNA, and the picture of the circRNA-miRNA regulatory networks was drawn.

Conclusion There are differentially expressed circRNA between the SMA group and the control group. These circRNA may be involved in the occurrence and development of SMA, and may become potential molecular markers for novel diagnosis and treatment of SMA in the future.