ArticlePediatric research2026
Integrated transcriptomics and proteomics analysis reveal potential target in pediatric primary restrictive cardiomyopathy.
Article in Pediatric research, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundThe heterogeneous etiology and limited therapeutic options of pediatric restrictive cardiomyopathy (RCM)underscore the urgent need to elucidate its molecular mechanisms and identify potential treatment targets.
methodsWe performed integrated transcriptomic and proteomic analyses on myocardial tissues from 7 pediatric RCM patients and 3 control donors. Differentially expressed genes (DEG) were detected, with log
resultsMulti-omics integration revealed 23 consistently dysregulated genes/proteins central to RCM pathogenesis (FDR adjusted P < 0.05). RNA validation confirmed significant expression changes in most hub genes, while protein-level assays demonstrated marked downregulation of CKB, PGAM2, and TPM2 in RCM myocardium (P < 0.05). Functional enrichment analysis highlighted the involvement of these molecules in critical pathways, including muscle contraction, sarcomere organization, and extracellular matrix remodeling. Drug prediction analysis identified several repurposed candidates, including phenytoin, diazepam, and paricalcitol, which may target these aberrant pathways.
conclusionsThis study elucidates the fundamental molecular mechanisms underlying muscle contraction and energy metabolism in RCM, while simultaneously translating these insights into clinically actionable strategies. Specifically, it identifies the downregulation of key proteins as potential biomarkers and proposes drug repurposing strategies informed by pathway analysis. These findings offer a novel perspective on the pathophysiology of RCM and establish an evidence-based foundation for the development of targeted diagnostic and therapeutic tools. IMPACT: This study offers a novel perspective on the mechanisms underlying pediatric primary restrictive cardiomyopathy, specifically highlighting abnormalities in muscle regulation and the myocardial extracellular matrix. Additionally, the predicted therapeutic targets for pediatric primary restrictive cardiomyopathy indicate the new directions for their clinical management except for the treatment of advanced heart failure.
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