Uncovering the pathogenesis of microtia using bioinformatics approach

Abstract

Objective: Bioinformatics is widely used in the field of cancer research, but in the research of pathogenesis of congenital malformations the situation is different. The aim of this study was to explore the underlying mechanism using bioinformatics approach.

Methods: The data were available from Mouse Genome Informatics and Pubmed. Protein-protein interaction (PPI) network of pathogenic genes was conducted using STRING. Gene ontology and pathway enrichment analyses were also performed to pathogenic genes.

Results: Total 63 genes were identified as pathogenic genes in the study. The PPI networks for pathogenic genes were constructed, which contained 62 nodes and 228 edges with PAX6, FGFR1 and CTNNB1 as the hub genes. All the genes were linked to 921 pathways in biological processes, 31 pathways in cell component, 41 pathways in molecular function, and 76 pathways in the KEGG. These genes were discovered significantly enriched in embryonic organ development, ear morphogenesis, ear development, and regulation of RNA synthesis and processing.

Conclusions: bioinformatics methods were utilized to analysis pathogenic genes involved in microtia development, including pathogenic genes identifying, PPI network construction and functional analysis. And we also predicted that several potential mechanisms might contribute to occurrence of microtia by disturbing GO terms and pathways. This approach could be useful for the study of the etiology and pathogenesis of microtia.

Keywords: Bioinformatics; Gene ontology (GO); Kyoto encyclopedia of genes and genomes; Microtia; Protein-protein interaction.