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<p>EPM2A encodes Laforin, a dual-specificity phosphatase essential for glycogen metabolism. Mutations cause Lafora disease, a fatal neurodegenerative disorder. This study investigates EPM2A’s protein interactions, identifies partners, and examines its role in glycogen metabolism and disease. EPM2A-associated proteins were retrieved from the STRING database (confidence threshold 0.7). The PPI network was analyzed using Cytoscape. Gene Ontology enrichment analysis determined biological processes and functions. KEGG and Reactome pathway analysis identified metabolic pathways and disease associations. <i>K</i>-Means, MCL, and DBSCAN clustering classified proteins. The EPM2A network showed enrichment (<i>p</i> = 1.63<i>e</i> −11), with 39 edges and an average node degree of 7.09. Biological process analysis confirmed glycogen metabolism (GO:0005977, FDR = 9.04<i>E</i> − 21) and biosynthesis (GO:0005978, FDR = 3.33<i>E</i> − 15) as major categories. Pathway analysis linked EPM2A to starch metabolism and Lafora disease. Clustering highlighted protein groups in glycogen synthesis and regulation. EPM2A regulates glycogen metabolism with strong disease associations. Its role suggests potential therapeutic applications for glycogen-related diseases. This computational analysis suggests potential molecular mechanisms involved in the regulation of glycogen metabolism, which necessitate validation through experimental studies.</p>

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Protein-Protein Interaction Network and Clustering Analysis of EPM2A: Insights into Glycogen Metabolism and Disease Associations

  • 期刊论文

  • 发表日期：

    2025年10月15日

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  • Kasala Farzia,
  • Usha Adiga,
  • Sampara Vasishta,
  • Tunuguntla Amulya

摘要

EPM2A encodes Laforin, a dual-specificity phosphatase essential for glycogen metabolism. Mutations cause Lafora disease, a fatal neurodegenerative disorder. This study investigates EPM2A’s protein interactions, identifies partners, and examines its role in glycogen metabolism and disease. EPM2A-associated proteins were retrieved from the STRING database (confidence threshold 0.7). The PPI network was analyzed using Cytoscape. Gene Ontology enrichment analysis determined biological processes and functions. KEGG and Reactome pathway analysis identified metabolic pathways and disease associations. K-Means, MCL, and DBSCAN clustering classified proteins. The EPM2A network showed enrichment (p = 1.63e −11), with 39 edges and an average node degree of 7.09. Biological process analysis confirmed glycogen metabolism (GO:0005977, FDR = 9.04E − 21) and biosynthesis (GO:0005978, FDR = 3.33E − 15) as major categories. Pathway analysis linked EPM2A to starch metabolism and Lafora disease. Clustering highlighted protein groups in glycogen synthesis and regulation. EPM2A regulates glycogen metabolism with strong disease associations. Its role suggests potential therapeutic applications for glycogen-related diseases. This computational analysis suggests potential molecular mechanisms involved in the regulation of glycogen metabolism, which necessitate validation through experimental studies.