AI Article Synopsis

  • - Brugada Syndrome (BrS) is a genetic heart condition that increases the risk of sudden cardiac death, and it's now thought to involve multiple genes rather than just one.
  • - Research involving 42 BrS patients and 42 healthy individuals showed significant changes in gene expression and protein sialylation in the blood cells of those with BrS, linking these changes to the disease's symptoms.
  • - The study suggests that disruptions in protein sialylation not only affect heart channels but also impact other body tissues, indicating potential biomarkers for diagnosing BrS.

Article Abstract

Brugada Syndrome (BrS) is an inherited arrhythmogenic disorder with an increased risk of sudden cardiac death. Recent evidence suggests that BrS should be considered as an oligogenic or polygenic condition. Mutations in genes associated with BrS are found in about one-third of patients and they mainly disrupt the cardiac sodium channel NaV1.5, which is considered the main cause of the disease. However, voltage-gated channel's activity could be impacted by post-translational modifications such as sialylation, but their role in BrS remains unknown. Thus, we analyzed high risk BrS patients ( = 42) and healthy controls ( = 42) to assess an involvement of sialylation in BrS. Significant alterations in gene expression and protein sialylation were detected in Peripheral Blood Mononuclear Cells (PBMCs) from BrS patients. These changes were significantly associated with the phenotypic expression of the disease, as the size of the arrhythmogenic substrate and the duration of epicardial electrical abnormalities. Moreover, protein desialylation caused a reduction in the sodium current in an in vitro NaV1.5-overexpressing model. Dysregulation of the sialylation machinery provides definitive evidence that BrS affects extracardiac tissues, suggesting an underlying cause of the disease. Moreover, detection of these changes at the systemic level and their correlation with the clinical phenotype hint at the existence of a biomarker signature for BrS.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9655504PMC
http://dx.doi.org/10.3390/ijms232113154DOI Listing

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