Computer reconstruction of the interaction of genes associated with Angelman syndrome DOI: 10.29188/2712-9217-2024-10-4-7-19

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Reconstruction of the structure of the gene network for a set of genes associated with the disease makes it possible to determine the effectiveness of diagnosis and therapy, and to study the possibilities of targeted drug effects on target genes. The study of Angelman syndrome, a hereditary disorder of the development of the nervous system by modern means of bioinformatics, involves the search for associated genes as targets for medicinal effects. Angelman syndrome is characterized by developmental delay, severe learning difficulties, ataxia, convulsive disorder, and changes in character and behavior. Based on database queries, a set of genes was built and the gene network of this disease was reconstructed (graphical representation). Gene ontologies for genes associated with Angelman syndrome are considered, their connection with hormones and the development of the nervous system is shown. The structure of the network is investigated, nodal genes are found, and their functional annotation is presented. Network clusters are highlighted. The technique of using online bioinformatics tools for the reconstruction of gene networks of rare and complex diseases is shown. A network of related diseases has been built for Angelman syndrome, and the role of the UBE3A gene has been described. Using the example of Angelman syndrome, the role of database integration for gene search for therapy is discussed.