Abstract 4147640: Genetic Insights in Dilated Cardiomyopathy: SSPN as a Key Player

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Background: Dilated cardiomyopathy (DCM) is a complex condition characterized by the dilation and impaired contraction of the left ventricle, which ultimately leads to heart failure. DCM has a multifactorial background, involving genetic, environmental, and infectious components. The genetic aspect of DCM is particularly significant, with numerous genes implicated in its pathogenesis. This study aims to identify differentially expressed genes (DEGs) involved in DCM, thereby contributing to the existing body of literature and facilitating further investigations into potential biomarkers and therapeutic targets for the disease. Methods: Data from the GSE1869, GSE3585, GSE4172, and GSE3586 datasets were obtained from the Gene Expression Omnibus (GEO) database. DEGs were identified using the GEO2R tool with an adjusted p-value cutoff of ≤0.05. Results: From the GSE1869 dataset, 3,692 DEGs were identified, alongside 691 DEGs from GSE4172, 889s DEG from GSE3586, and 95 DEGs from GSE3585. Intersection analysis revealed one mutual DEG across all four datasets: SSPN. SSPN, or sarcospan, is a component of the dystrophin-glycoprotein complex involved in stabilizing muscle cell membranes. As only one mutual DEG was identified, the findings suggest significant heterogeneity in gene expression profiles associated with DCM or potential limitations in the datasets. Conclusions: The identification of SSPN as a DEG associated with DCM provides valuable insights. Its expression in the heart has the potential to affect cardiac structural integrity and function. This gene holds promise as a potential biomarker that could inform the development of targeted therapies, highlighting its significance in the molecular mechanisms of the disease and warranting further investigation.